Canonical Allele Identifier: CA363319375

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269382-C-T
• MyVariant Identifiers: chr6:g.31237159C>T (hg19) ; chr6:g.31269382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269382C>T , CM000668.2:g.31269382C>T	GRCh38
NC_000006.11:g.31237159C>T , CM000668.1:g.31237159C>T	GRCh37
NC_000006.10:g.31345138C>T	NCBI36
NG_029422.2:g.7750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1052G>A MANE Select	ENSP00000365402.5:p.Ser351Asn
ENST00000376228.9:c.1052G>A	ENSP00000365402.5:p.Ser351Asn
ENST00000376237.8:c.*639G>A	ENSP00000365412.4:n.*639G>A
ENST00000383329.7:c.1070G>A	ENSP00000372819.3:p.Ser357Asn
ENST00000466892.5:n.285G>A
ENST00000470363.5:n.810G>A
ENST00000487245.5:n.1411G>A
NM_002117.5:c.1052G>A	NP_002108.4:p.Ser351Asn
NM_002117.6:c.1052G>A MANE Select	NP_002108.4:p.Ser351Asn