Canonical Allele Identifier: CA363319894
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270079-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270079G>T , CM000668.2:g.31270079G>T GRCh38
NC_000006.11:g.31237856G>T , CM000668.1:g.31237856G>T GRCh37
NC_000006.10:g.31345835G>T NCBI36
NG_029422.2:g.7053C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.902C>A MANE Select ENSP00000365402.5:p.Ser301Tyr
ENST00000376228.9:c.902C>A ENSP00000365402.5:p.Ser301Tyr
ENST00000376237.8:c.*489C>A ENSP00000365412.4:n.*489C>A
ENST00000383329.7:c.902C>A ENSP00000372819.3:p.Ser301Tyr
ENST00000470363.5:n.220C>A
ENST00000487245.5:n.1261C>A
NM_002117.5:c.902C>A NP_002108.4:p.Ser301Tyr
NM_002117.6:c.902C>A MANE Select NP_002108.4:p.Ser301Tyr