Canonical Allele Identifier: CA363319336

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269374-C-T
• MyVariant Identifiers: chr6:g.31237151C>T (hg19) ; chr6:g.31269374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269374C>T , CM000668.2:g.31269374C>T	GRCh38
NC_000006.11:g.31237151C>T , CM000668.1:g.31237151C>T	GRCh37
NC_000006.10:g.31345130C>T	NCBI36
NG_029422.2:g.7758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1060G>A MANE Select	ENSP00000365402.5:p.Ala354Thr
ENST00000376228.9:c.1060G>A	ENSP00000365402.5:p.Ala354Thr
ENST00000376237.8:c.*647G>A	ENSP00000365412.4:n.*647G>A
ENST00000383329.7:c.1078G>A	ENSP00000372819.3:p.Ala360Thr
ENST00000466892.5:n.293G>A
ENST00000470363.5:n.818G>A
ENST00000487245.5:n.1419G>A
NM_002117.5:c.1060G>A	NP_002108.4:p.Ala354Thr
NM_002117.6:c.1060G>A MANE Select	NP_002108.4:p.Ala354Thr