Canonical Allele Identifier: CA363319571
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269980-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269980C>T , CM000668.2:g.31269980C>T GRCh38
NC_000006.11:g.31237757C>T , CM000668.1:g.31237757C>T GRCh37
NC_000006.10:g.31345736C>T NCBI36
NG_029422.2:g.7152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1001G>A MANE Select ENSP00000365402.5:p.Arg334Lys
ENST00000376228.9:c.1001G>A ENSP00000365402.5:p.Arg334Lys
ENST00000376237.8:c.*588G>A ENSP00000365412.4:n.*588G>A
ENST00000383329.7:c.1001G>A ENSP00000372819.3:p.Arg334Lys
ENST00000470363.5:n.319G>A
ENST00000487245.5:n.1360G>A
NM_002117.5:c.1001G>A NP_002108.4:p.Arg334Lys
NM_002117.6:c.1001G>A MANE Select NP_002108.4:p.Arg334Lys