Canonical Allele Identifier: CA363577578
Gene: HLA-DQA1 HGNC NCBI

Linked Data

dbSNP Id: rs1048372
gnomAD v3: 6-32642659-T-G
gnomAD v4: 6-32642659-T-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000343139.11:c.663T>G MANE Select ENSP00000339398.5:p.Cys221Trp
ENST00000343139.9:c.663T>G ENSP00000339398.5:p.Cys221Trp
ENST00000374949.2:c.663T>G ENSP00000364087.2:p.Cys221Trp
ENST00000395363.5:c.663T>G ENSP00000378767.1:p.Cys221Trp
ENST00000460633.1:n.1047T>G
ENST00000482745.5:c.*1495T>G ENSP00000436546.1:n.*1495T>G
ENST00000496318.5:c.614-293T>G ENSP00000437302.1:n.614-293T>G
NM_002122.3:c.663T>G NP_002113.2:p.Cys221Trp
XM_006715079.2:c.613+406T>G XP_006715142.1:n.613+406T>G
XM_006715079.4:c.613+406T>G XP_006715142.1:n.613+406T>G
XR_001744085.1:n.15A>C
NM_002122.5:c.663T>G MANE Select NP_002113.2:p.Cys221Trp