Canonical Allele Identifier: CA363328565

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113913247
• gnomAD v3: 6-31271613-T-G
• gnomAD v4: 6-31271613-T-G
• MyVariant Identifiers: chr6:g.31239390T>G (hg19) ; chr6:g.31271613T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271613T>G , CM000668.2:g.31271613T>G	GRCh38
NC_000006.11:g.31239390T>G , CM000668.1:g.31239390T>G	GRCh37
NC_000006.10:g.31347369T>G	NCBI36
NG_029422.2:g.5519A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.329A>C MANE Select	ENSP00000365402.5:p.Asn110Thr
ENST00000376228.9:c.329A>C	ENSP00000365402.5:p.Asn110Thr
ENST00000376237.8:c.329A>C	ENSP00000365412.4:p.Asn110Thr
ENST00000383329.7:c.329A>C	ENSP00000372819.3:p.Asn110Thr
ENST00000415537.1:c.327A>C
ENST00000484378.1:n.348A>C
ENST00000487245.5:n.438A>C
ENST00000495835.1:n.518A>C
NM_002117.5:c.329A>C	NP_002108.4:p.Asn110Thr
NM_002117.6:c.329A>C MANE Select	NP_002108.4:p.Asn110Thr