Canonical Allele Identifier: CA3743657
Gene: HLA-DQA1 HGNC NCBI
COSMIC:
COSM4160985
dbSNP:
1047992
gnomAD v2:
6:32605266 G / A
gnomAD v3:
6:32637489 G / A
gnomAD v4:
chr6-32637489-G-A
Joint Max Group AF 0.0217229 (AMR)
Genomes Max Group AF 0.00013809 (AFR)
Exomes Max Group AF 0.02720817 (AMR)
MyVariant.info:
GRCh38 chr6:g.32637489G>A
GRCh37 chr6:g.32605266G>A
Revel Score:
ENST00000422863 0.106
ENST00000343139 (MANE Select) 0.106
ENST00000395364 0.106
ENST00000395363 0.106
ENST00000496318 0.106
ENST00000374949 0.106
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32637489G>A , CM000668.2:g.32637489G>A GRCh38
NC_000006.11:g.32605266G>A , CM000668.1:g.32605266G>A GRCh37
NC_000006.10:g.32713244G>A NCBI36
NG_032876.1:g.5084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.31G>A MANE Select ENSP00000339398.5:p.Ala11Thr
ENST00000343139.9:c.31G>A ENSP00000339398.5:p.Ala11Thr
ENST00000374949.2:c.31G>A ENSP00000364087.2:p.Ala11Thr
ENST00000395363.5:c.31G>A ENSP00000378767.1:p.Ala11Thr
ENST00000422863.1:c.31G>A ENSP00000405797.1:p.Ala11Thr
ENST00000460633.1:n.59G>A
ENST00000482745.5:c.31G>A ENSP00000436546.1:p.Ala11Thr
ENST00000496318.5:c.31G>A ENSP00000437302.1:p.Ala11Thr
NM_002122.3:c.31G>A NP_002113.2:p.Ala11Thr
XM_006715079.2:c.31G>A XP_006715142.1:p.Ala11Thr
XM_006715079.4:c.31G>A XP_006715142.1:p.Ala11Thr
XR_001744085.1:n.3079C>T
NM_002122.5:c.31G>A MANE Select NP_002113.2:p.Ala11Thr
Search 100 bp 5'
Search 100 bp 3'