Canonical Allele Identifier: CA363321977

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270368-T-G
• gnomAD v4: 6-31270368-T-G
• MyVariant Identifiers: chr6:g.31238145T>G (hg19) ; chr6:g.31270368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270368T>G , CM000668.2:g.31270368T>G	GRCh38
NC_000006.11:g.31238145T>G , CM000668.1:g.31238145T>G	GRCh37
NC_000006.10:g.31346124T>G	NCBI36
NG_029422.2:g.6764A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.737A>C MANE Select	ENSP00000365402.5:p.Glu246Ala
ENST00000376228.9:c.737A>C	ENSP00000365402.5:p.Glu246Ala
ENST00000376237.8:c.*324A>C	ENSP00000365412.4:n.*324A>C
ENST00000383329.7:c.737A>C	ENSP00000372819.3:p.Glu246Ala
ENST00000415537.1:c.665-37A>C
ENST00000470363.5:n.55A>C
ENST00000487245.5:n.1096A>C
ENST00000495835.1:n.926A>C
NM_002117.5:c.737A>C	NP_002108.4:p.Glu246Ala
NM_002117.6:c.737A>C MANE Select	NP_002108.4:p.Glu246Ala