Canonical Allele Identifier: CA3743738
Gene: HLA-DQA1 HGNC NCBI
ClinVar RCV:
RCV001671063
ClinVar Variation:
1258533
COSMIC:
COSM3733868
dbSNP:
1129740
gnomAD v2:
6:32609105 G / A
gnomAD v3:
6:32641328 G / A
gnomAD v4:
chr6-32641328-G-A
Joint Max Group AF 0.48588858 (AMR)
Genomes Max Group AF 0.29999261 (NFE)
Exomes Max Group AF 0.54181712 (AMR)
MyVariant.info:
GRCh38 chr6:g.32641328G>A
GRCh37 chr6:g.32609105G>A
Revel Score:
ENST00000343139 (MANE Select) 0.285
ENST00000395364 0.285
ENST00000395363 0.285
ENST00000496318 0.285
ENST00000374949 0.285
ENST00000486548 0.053
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32641328G>A , CM000668.2:g.32641328G>A GRCh38
NC_000006.11:g.32609105G>A , CM000668.1:g.32609105G>A GRCh37
NC_000006.10:g.32717083G>A NCBI36
NG_032876.1:g.8923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.101G>A MANE Select ENSP00000339398.5:p.Cys34Tyr
ENST00000343139.9:c.101G>A ENSP00000339398.5:p.Cys34Tyr
ENST00000374949.2:c.101G>A ENSP00000364087.2:p.Cys34Tyr
ENST00000395363.5:c.101G>A ENSP00000378767.1:p.Cys34Tyr
ENST00000460633.1:n.129G>A
ENST00000482745.5:c.*933G>A ENSP00000436546.1:n.*933G>A
ENST00000496318.5:c.101G>A ENSP00000437302.1:p.Cys34Tyr
NM_002122.3:c.101G>A NP_002113.2:p.Cys34Tyr
XM_006715079.2:c.101G>A XP_006715142.1:p.Cys34Tyr
XM_006715079.4:c.101G>A XP_006715142.1:p.Cys34Tyr
XR_001744085.1:n.87-847C>T
NM_002122.5:c.101G>A MANE Select NP_002113.2:p.Cys34Tyr
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