Canonical Allele Identifier: CA363328687
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1421337981
gnomAD v4: 6-31271629-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271629G>C , CM000668.2:g.31271629G>C GRCh38
NC_000006.11:g.31239406G>C , CM000668.1:g.31239406G>C GRCh37
NC_000006.10:g.31347385G>C NCBI36
NG_029422.2:g.5503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.313C>G MANE Select ENSP00000365402.5:p.Leu105Val
ENST00000376228.9:c.313C>G ENSP00000365402.5:p.Leu105Val
ENST00000376237.8:c.313C>G ENSP00000365412.4:p.Leu105Val
ENST00000383329.7:c.313C>G ENSP00000372819.3:p.Leu105Val
ENST00000415537.1:c.311C>G
ENST00000484378.1:n.332C>G
ENST00000487245.5:n.422C>G
ENST00000495835.1:n.502C>G
NM_002117.5:c.313C>G NP_002108.4:p.Leu105Val
NM_002117.6:c.313C>G MANE Select NP_002108.4:p.Leu105Val