Canonical Allele Identifier: CA449609603

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113901937
• gnomAD v4: 6-31269375-A-G
• MyVariant Identifiers: chr6:g.31237152A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269375A>G , CM000668.2:g.31269375A>G	GRCh38
NC_000006.11:g.31237152A>G , CM000668.1:g.31237152A>G	GRCh37
NC_000006.10:g.31345131A>G	NCBI36
NG_029422.2:g.7757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1059T>C MANE Select	ENSP00000365402.5:p.Ser353=
ENST00000376228.9:c.1059T>C	ENSP00000365402.5:p.Ser353=
ENST00000376237.8:c.*646T>C	ENSP00000365412.4:n.*646T>C
ENST00000383329.7:c.1077T>C	ENSP00000372819.3:p.Ser359=
ENST00000466892.5:n.292T>C
ENST00000470363.5:n.817T>C
ENST00000487245.5:n.1418T>C
NM_002117.5:c.1059T>C	NP_002108.4:p.Ser353=
NM_002117.6:c.1059T>C MANE Select	NP_002108.4:p.Ser353=