Canonical Allele Identifier: CA363319758
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270046-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270046A>G , CM000668.2:g.31270046A>G GRCh38
NC_000006.11:g.31237823A>G , CM000668.1:g.31237823A>G GRCh37
NC_000006.10:g.31345802A>G NCBI36
NG_029422.2:g.7086T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.935T>C MANE Select ENSP00000365402.5:p.Val312Ala
ENST00000376228.9:c.935T>C ENSP00000365402.5:p.Val312Ala
ENST00000376237.8:c.*522T>C ENSP00000365412.4:n.*522T>C
ENST00000383329.7:c.935T>C ENSP00000372819.3:p.Val312Ala
ENST00000470363.5:n.253T>C
ENST00000487245.5:n.1294T>C
NM_002117.5:c.935T>C NP_002108.4:p.Val312Ala
NM_002117.6:c.935T>C MANE Select NP_002108.4:p.Val312Ala