a69f0bd67dca4c804a9017f328b37a15557613d0 jnavarr5 Thu Nov 6 15:15:47 2025 -0800 Documenting that you can search for gnomAD IDs, refs #36388 diff --git src/hg/htdocs/goldenPath/help/query.html src/hg/htdocs/goldenPath/help/query.html index cf2d8416392..f2c9861a993 100755 --- src/hg/htdocs/goldenPath/help/query.html +++ src/hg/htdocs/goldenPath/help/query.html @@ -24,30 +24,32 @@
  • Chromosome numbers
  • Chromosomal coordinate ranges
  • Gene names
  • Accession numbers
  • An mRNA, EST or STS marker
  • Keywords from the GenBank description of an mRNA
  • HGVS terms
  • + gnomAD variant IDs
  • +
  • HGVS and accession searches on outdated RefSeq accession versions is available on hg38
  • To specify a genome position:

    1. Select the desired clade, genome and assembly
    2. Enter the desired query in the "Position/Search Term" box (see sample queries below)
    3. Click the "Go" button

    @@ -150,30 +152,33 @@ NM_000310.4(PPT1):c.271_287del17insTT
    NM_007262.5(PARK7):c.-24+75_-24+92dup
    NM_006172.4(NPPA):c.456_*1delAA
    MYH11:c.503-14_503-12del
    NM_198576.4(AGRN):c.1057C>T
    NM_198056.3:c.1654G>T
    NP_002993.1:p.Asp92Glu
    NP_002993.1:p.D92E
    BRCA1 Ala744Cys
    BRCA1 A744C
    LRG_100t1:c.4G>A
    LRG_100t1:n.1
    LRG_456p1:p.Ser190Leu
    LRG_321:g.16409_16461del
    ENST00000002596.6:c.-108-6848A>G
    ENSP00000005178.5:p.Val20Gly
    chrX:g.31500000_31600000del
    NR_111987:n.-1
    NM_015102.5:n.3038-2
    NM_001372044:c.1528_1530del Displays the region that matches the HGVS expression, usually in the format <transcript or protein>:<position> <amino acid or nucleotide change>
    If a gene symbol is used, HGVS search will try all RefSeq transcripts to find the nucleotide or amino acid at the position indicated in the expression. If there are multiple matches, a disambiguation page will be shown. If the RefSeq sequence differs from the genome sequence, then currently the search will use the genome, not the transcript, for codon counting and amino acid / nucleotide comparison. Please contact us if this is inconvenient. NM_198056.2:c.1A>C An example of an HGVS search on a previous NM version that is now outdated. Support for previous NM accessions is only available on hg38. + + 1-55051215-G-GA + Displays the region that matches the gnomAD variant ID, 1-55051215-G-GA essv8694097 Displays the region covering the copy number variant with the accession essv8694097 in the Database of Genomic Variants (DGV) nssv3446126