Canonical Allele Identifier: CA363328736
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271638-G-T
gnomAD v4: 6-31271638-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271638G>T , CM000668.2:g.31271638G>T GRCh38
NC_000006.11:g.31239415G>T , CM000668.1:g.31239415G>T GRCh37
NC_000006.10:g.31347394G>T NCBI36
NG_029422.2:g.5494C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.304C>A MANE Select ENSP00000365402.5:p.Leu102Met
ENST00000376228.9:c.304C>A ENSP00000365402.5:p.Leu102Met
ENST00000376237.8:c.304C>A ENSP00000365412.4:p.Leu102Met
ENST00000383329.7:c.304C>A ENSP00000372819.3:p.Leu102Met
ENST00000415537.1:c.302C>A
ENST00000484378.1:n.323C>A
ENST00000487245.5:n.413C>A
ENST00000495835.1:n.493C>A
NM_002117.5:c.304C>A NP_002108.4:p.Leu102Met
NM_002117.6:c.304C>A MANE Select NP_002108.4:p.Leu102Met