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HGVS and accession searches on outdated RefSeq accession versions is available on hg38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:
-
Select the desired clade, genome and assembly
-
Enter the desired query in the "Position/Search Term" box (see sample queries
below)
-
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An example of an HGVS search on a previous NM version that is now outdated.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 |