Canonical Allele Identifier: CA363319592
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1050105
gnomAD v4: 6-31269992-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269992G>T , CM000668.2:g.31269992G>T GRCh38
NC_000006.11:g.31237769G>T , CM000668.1:g.31237769G>T GRCh37
NC_000006.10:g.31345748G>T NCBI36
NG_029422.2:g.7140C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.989C>A MANE Select ENSP00000365402.5:p.Ala330Asp
ENST00000376228.9:c.989C>A ENSP00000365402.5:p.Ala330Asp
ENST00000376237.8:c.*576C>A ENSP00000365412.4:n.*576C>A
ENST00000383329.7:c.989C>A ENSP00000372819.3:p.Ala330Asp
ENST00000470363.5:n.307C>A
ENST00000487245.5:n.1348C>A
NM_002117.5:c.989C>A NP_002108.4:p.Ala330Asp
NM_002117.6:c.989C>A MANE Select NP_002108.4:p.Ala330Asp