Canonical Allele Identifier: CA363319827
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1322954525
gnomAD v2: 6-31237839-G-A
gnomAD v3: 6-31270062-G-A
gnomAD v4: 6-31270062-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270062G>A , CM000668.2:g.31270062G>A GRCh38
NC_000006.11:g.31237839G>A , CM000668.1:g.31237839G>A GRCh37
NC_000006.10:g.31345818G>A NCBI36
NG_029422.2:g.7070C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.919C>T MANE Select ENSP00000365402.5:p.Pro307Ser
ENST00000376228.9:c.919C>T ENSP00000365402.5:p.Pro307Ser
ENST00000376237.8:c.*506C>T ENSP00000365412.4:n.*506C>T
ENST00000383329.7:c.919C>T ENSP00000372819.3:p.Pro307Ser
ENST00000470363.5:n.237C>T
ENST00000487245.5:n.1278C>T
NM_002117.5:c.919C>T NP_002108.4:p.Pro307Ser
NM_002117.6:c.919C>T MANE Select NP_002108.4:p.Pro307Ser