Canonical Allele Identifier: CA363319829
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270062-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270062G>C , CM000668.2:g.31270062G>C GRCh38
NC_000006.11:g.31237839G>C , CM000668.1:g.31237839G>C GRCh37
NC_000006.10:g.31345818G>C NCBI36
NG_029422.2:g.7070C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.919C>G MANE Select ENSP00000365402.5:p.Pro307Ala
ENST00000376228.9:c.919C>G ENSP00000365402.5:p.Pro307Ala
ENST00000376237.8:c.*506C>G ENSP00000365412.4:n.*506C>G
ENST00000383329.7:c.919C>G ENSP00000372819.3:p.Pro307Ala
ENST00000470363.5:n.237C>G
ENST00000487245.5:n.1278C>G
NM_002117.5:c.919C>G NP_002108.4:p.Pro307Ala
NM_002117.6:c.919C>G MANE Select NP_002108.4:p.Pro307Ala