Canonical Allele Identifier: CA363319475

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31269522-C-G
• gnomAD v4: 6-31269522-C-G
• MyVariant Identifiers: chr6:g.31237299C>G (hg19) ; chr6:g.31269522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269522C>G , CM000668.2:g.31269522C>G	GRCh38
NC_000006.11:g.31237299C>G , CM000668.1:g.31237299C>G	GRCh37
NC_000006.10:g.31345278C>G	NCBI36
NG_029422.2:g.7610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1019G>C MANE Select	ENSP00000365402.5:p.Gly340Ala
ENST00000376228.9:c.1019G>C	ENSP00000365402.5:p.Gly340Ala
ENST00000376237.8:c.*606G>C	ENSP00000365412.4:n.*606G>C
ENST00000383329.7:c.1037G>C	ENSP00000372819.3:p.Gly346Ala
ENST00000466892.5:n.145G>C
ENST00000470363.5:n.777G>C
ENST00000487245.5:n.1378G>C
NM_002117.5:c.1019G>C	NP_002108.4:p.Gly340Ala
NM_002117.6:c.1019G>C MANE Select	NP_002108.4:p.Gly340Ala