Canonical Allele Identifier: CA363319422

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269499-C-G
• MyVariant Identifiers: chr6:g.31237276C>G (hg19) ; chr6:g.31269499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269499C>G , CM000668.2:g.31269499C>G	GRCh38
NC_000006.11:g.31237276C>G , CM000668.1:g.31237276C>G	GRCh37
NC_000006.10:g.31345255C>G	NCBI36
NG_029422.2:g.7633G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.1042G>C MANE Select	ENSP00000365402.5:p.Ala348Pro
ENST00000376228.9:c.1042G>C	ENSP00000365402.5:p.Ala348Pro
ENST00000376237.8:c.*629G>C	ENSP00000365412.4:n.*629G>C
ENST00000383329.7:c.1060G>C	ENSP00000372819.3:p.Ala354Pro
ENST00000466892.5:n.168G>C
ENST00000470363.5:n.800G>C
ENST00000487245.5:n.1401G>C
NM_002117.5:c.1042G>C	NP_002108.4:p.Ala348Pro
NM_002117.6:c.1042G>C MANE Select	NP_002108.4:p.Ala348Pro