Canonical Allele Identifier: CA363319159

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31269336-A-C
• gnomAD v4: 6-31269336-A-C
• MyVariant Identifiers: chr6:g.31237113A>C (hg19) ; chr6:g.31269336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269336A>C , CM000668.2:g.31269336A>C	GRCh38
NC_000006.11:g.31237113A>C , CM000668.1:g.31237113A>C	GRCh37
NC_000006.10:g.31345092A>C	NCBI36
NG_029422.2:g.7796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1096+2T>G MANE Select	ENSP00000365402.5:n.1096+2T>G
ENST00000376228.9:c.1096+2T>G	ENSP00000365402.5:n.1096+2T>G
ENST00000376237.8:c.*683+2T>G	ENSP00000365412.4:n.*683+2T>G
ENST00000383329.7:c.1114+2T>G	ENSP00000372819.3:n.1114+2T>G
ENST00000466892.5:n.329+2T>G
ENST00000470363.5:n.854+2T>G
ENST00000487245.5:n.1455+2T>G
NM_002117.5:c.1096+2T>G	NP_002108.4:n.1096+2T>G
NM_002117.6:c.1096+2T>G MANE Select	NP_002108.4:n.1096+2T>G