Canonical Allele Identifier: CA3743885
Gene: HLA-DQA1 HGNC NCBI

Linked Data

dbSNP Id: rs368821483
gnomAD v2: 6-32609784-G-A
gnomAD v3: 6-32642007-G-A
gnomAD v4: 6-32642007-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32642007G>A , CM000668.2:g.32642007G>A GRCh38
NC_000006.11:g.32609784G>A , CM000668.1:g.32609784G>A GRCh37
NC_000006.10:g.32717762G>A NCBI36
NG_032876.1:g.9602G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343139.11:c.367G>A MANE Select ENSP00000339398.5:p.Val123Met
ENST00000343139.9:c.367G>A ENSP00000339398.5:p.Val123Met
ENST00000374949.2:c.367G>A ENSP00000364087.2:p.Val123Met
ENST00000395363.5:c.367G>A ENSP00000378767.1:p.Val123Met
ENST00000460633.1:n.395G>A
ENST00000482745.5:c.*1199G>A ENSP00000436546.1:n.*1199G>A
ENST00000496318.5:c.367G>A ENSP00000437302.1:p.Val123Met
NM_002122.3:c.367G>A NP_002113.2:p.Val123Met
XM_006715079.2:c.367G>A XP_006715142.1:p.Val123Met
XM_006715079.4:c.367G>A XP_006715142.1:p.Val123Met
XR_001744085.1:n.86+581C>T
NM_002122.5:c.367G>A MANE Select NP_002113.2:p.Val123Met