Canonical Allele Identifier: CA363319588
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269988-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269988C>T , CM000668.2:g.31269988C>T GRCh38
NC_000006.11:g.31237765C>T , CM000668.1:g.31237765C>T GRCh37
NC_000006.10:g.31345744C>T NCBI36
NG_029422.2:g.7144G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.993G>A MANE Select ENSP00000365402.5:p.Met331Ile
ENST00000376228.9:c.993G>A ENSP00000365402.5:p.Met331Ile
ENST00000376237.8:c.*580G>A ENSP00000365412.4:n.*580G>A
ENST00000383329.7:c.993G>A ENSP00000372819.3:p.Met331Ile
ENST00000470363.5:n.311G>A
ENST00000487245.5:n.1352G>A
NM_002117.5:c.993G>A NP_002108.4:p.Met331Ile
NM_002117.6:c.993G>A MANE Select NP_002108.4:p.Met331Ile