Canonical Allele Identifier: CA3743713
Gene: HLA-DQA1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32638979G>A
GRCh37 chr6:g.32606756G>A
gnomAD v2:
6:32606756 G / A
gnomAD v3:
6:32638979 G / A
gnomAD v4:
chr6-32638979-G-A
Joint Max Group AF 0.00463623 (AMR)
Genomes Max Group AF 0.00190909 (AFR)
Exomes Max Group AF 0.00624495 (AMR)
dbSNP:
9272535
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32638979G>A , CM000668.2:g.32638979G>A GRCh38
NC_000006.11:g.32606756G>A , CM000668.1:g.32606756G>A GRCh37
NC_000006.10:g.32714734G>A NCBI36
NG_032876.1:g.6574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.82+1439G>A MANE Select ENSP00000339398.5:n.82+1439G>A
ENST00000343139.9:c.82+1439G>A ENSP00000339398.5:n.82+1439G>A
ENST00000374949.2:c.82+1439G>A ENSP00000364087.2:n.82+1439G>A
ENST00000395363.5:c.82+1439G>A ENSP00000378767.1:n.82+1439G>A
ENST00000460633.1:n.110+1439G>A
ENST00000482745.5:c.150G>A ENSP00000436546.1:p.Lys50=
ENST00000496318.5:c.82+1439G>A ENSP00000437302.1:n.82+1439G>A
NM_002122.3:c.82+1439G>A NP_002113.2:n.82+1439G>A
XM_006715079.2:c.82+1439G>A XP_006715142.1:n.82+1439G>A
XM_006715079.4:c.82+1439G>A XP_006715142.1:n.82+1439G>A
XR_001744085.1:n.1589C>T
NM_002122.5:c.82+1439G>A MANE Select NP_002113.2:n.82+1439G>A
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