Canonical Allele Identifier: CA3744044
Gene: HLA-DQA1 HGNC NCBI
COSMIC:
COSM3745174 (not active)
MyVariant.info:
GRCh38 chr6:g.32642659T>C
GRCh37 chr6:g.32610436T>C
gnomAD v2:
6:32610436 T / C
gnomAD v3:
6:32642659 T / C
gnomAD v4:
chr6-32642659-T-C
Joint Max Group AF 0.63527802 (AMR)
Genomes Max Group AF 0.36507711 (AMR)
Exomes Max Group AF 0.69505193 (AMR)
dbSNP:
1048372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32642659T>C , CM000668.2:g.32642659T>C GRCh38
NC_000006.11:g.32610436T>C , CM000668.1:g.32610436T>C GRCh37
NC_000006.10:g.32718414T>C NCBI36
NG_032876.1:g.10254T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.663T>C MANE Select ENSP00000339398.5:p.Cys221=
ENST00000343139.9:c.663T>C ENSP00000339398.5:p.Cys221=
ENST00000374949.2:c.663T>C ENSP00000364087.2:p.Cys221=
ENST00000395363.5:c.663T>C ENSP00000378767.1:p.Cys221=
ENST00000460633.1:n.1047T>C
ENST00000482745.5:c.*1495T>C ENSP00000436546.1:n.*1495T>C
ENST00000496318.5:c.614-293T>C ENSP00000437302.1:n.614-293T>C
NM_002122.3:c.663T>C NP_002113.2:p.Cys221=
XM_006715079.2:c.613+406T>C XP_006715142.1:n.613+406T>C
XM_006715079.4:c.613+406T>C XP_006715142.1:n.613+406T>C
XR_001744085.1:n.15A>G
NM_002122.5:c.663T>C MANE Select NP_002113.2:p.Cys221=
Search 100 bp 5'
Search 100 bp 3'