Canonical Allele Identifier: CA363576745
Gene: HLA-DQA1 HGNC NCBI

Linked Data

dbSNP Id: rs1365081207
gnomAD v2: 6-32609754-C-T
gnomAD v4: 6-32641977-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32641977C>T , CM000668.2:g.32641977C>T GRCh38
NC_000006.11:g.32609754C>T , CM000668.1:g.32609754C>T GRCh37
NC_000006.10:g.32717732C>T NCBI36
NG_032876.1:g.9572C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343139.11:c.337C>T MANE Select ENSP00000339398.5:p.Pro113Ser
ENST00000343139.9:c.337C>T ENSP00000339398.5:p.Pro113Ser
ENST00000374949.2:c.337C>T ENSP00000364087.2:p.Pro113Ser
ENST00000395363.5:c.337C>T ENSP00000378767.1:p.Pro113Ser
ENST00000460633.1:n.365C>T
ENST00000482745.5:c.*1169C>T ENSP00000436546.1:n.*1169C>T
ENST00000496318.5:c.337C>T ENSP00000437302.1:p.Pro113Ser
NM_002122.3:c.337C>T NP_002113.2:p.Pro113Ser
XM_006715079.2:c.337C>T XP_006715142.1:p.Pro113Ser
XM_006715079.4:c.337C>T XP_006715142.1:p.Pro113Ser
XR_001744085.1:n.86+611G>A
NM_002122.5:c.337C>T MANE Select NP_002113.2:p.Pro113Ser