Canonical Allele Identifier: CA363327300

Gene: HLA-C

Linked Data

• dbSNP Id: rs41563413
• gnomAD v2: 6-31239123-A-T
• gnomAD v4: 6-31271346-A-T
• MyVariant Identifiers: chr6:g.31239123A>T (hg19) ; chr6:g.31271346A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271346A>T , CM000668.2:g.31271346A>T	GRCh38
NC_000006.11:g.31239123A>T , CM000668.1:g.31239123A>T	GRCh37
NC_000006.10:g.31347102A>T	NCBI36
NG_029422.2:g.5786T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.346T>A MANE Select	ENSP00000365402.5:p.Ser116Thr
ENST00000376228.9:c.346T>A	ENSP00000365402.5:p.Ser116Thr
ENST00000376237.8:c.344-15T>A	ENSP00000365412.4:n.344-15T>A
ENST00000383329.7:c.346T>A	ENSP00000372819.3:p.Ser116Thr
ENST00000415537.1:c.344T>A
ENST00000484378.1:n.615T>A
ENST00000487245.5:n.705T>A
ENST00000495835.1:n.535T>A
NM_002117.5:c.346T>A	NP_002108.4:p.Ser116Thr
NM_002117.6:c.346T>A MANE Select	NP_002108.4:p.Ser116Thr