Canonical Allele Identifier: CA363326900

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113911353
• gnomAD v3: 6-31271303-T-G
• gnomAD v4: 6-31271303-T-G
• MyVariant Identifiers: chr6:g.31239080T>G (hg19) ; chr6:g.31271303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271303T>G , CM000668.2:g.31271303T>G	GRCh38
NC_000006.11:g.31239080T>G , CM000668.1:g.31239080T>G	GRCh37
NC_000006.10:g.31347059T>G	NCBI36
NG_029422.2:g.5829A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.389A>C MANE Select	ENSP00000365402.5:p.Asp130Ala
ENST00000376228.9:c.389A>C	ENSP00000365402.5:p.Asp130Ala
ENST00000376237.8:c.372A>C	ENSP00000365412.4:p.Arg124=
ENST00000383329.7:c.389A>C	ENSP00000372819.3:p.Asp130Ala
ENST00000415537.1:c.387A>C
ENST00000484378.1:n.658A>C
ENST00000487245.5:n.748A>C
ENST00000495835.1:n.578A>C
NM_002117.5:c.389A>C	NP_002108.4:p.Asp130Ala
NM_002117.6:c.389A>C MANE Select	NP_002108.4:p.Asp130Ala