Canonical Allele Identifier: CA3743884

Gene: HLA-DQA1

Linked Data

• ClinVar Variation Id: 2656471
• ClinVar RCV Id: RCV003428822
• dbSNP Id: rs1048124
• ExAC: 6:32609783 C / T
• gnomAD v2: 6-32609783-C-T
• gnomAD v3: 6-32642006-C-T
• gnomAD v4: 6-32642006-C-T
• MyVariant Identifiers: chr6:g.32609783C>T (hg19) ; chr6:g.32642006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32642006C>T , CM000668.2:g.32642006C>T	GRCh38
NC_000006.11:g.32609783C>T , CM000668.1:g.32609783C>T	GRCh37
NC_000006.10:g.32717761C>T	NCBI36
NG_032876.1:g.9601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343139.11:c.366C>T MANE Select	ENSP00000339398.5:p.Pro122=
ENST00000343139.9:c.366C>T	ENSP00000339398.5:p.Pro122=
ENST00000374949.2:c.366C>T	ENSP00000364087.2:p.Pro122=
ENST00000395363.5:c.366C>T	ENSP00000378767.1:p.Pro122=
ENST00000460633.1:n.394C>T
ENST00000482745.5:c.*1198C>T	ENSP00000436546.1:n.*1198C>T
ENST00000496318.5:c.366C>T	ENSP00000437302.1:p.Pro122=
NM_002122.3:c.366C>T	NP_002113.2:p.Pro122=
XM_006715079.2:c.366C>T	XP_006715142.1:p.Pro122=
XM_006715079.4:c.366C>T	XP_006715142.1:p.Pro122=
XR_001744085.1:n.86+582G>A
NM_002122.5:c.366C>T MANE Select	NP_002113.2:p.Pro122=