Canonical Allele Identifier: CA363319498
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269532-G-A
gnomAD v4: 6-31269532-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269532G>A , CM000668.2:g.31269532G>A GRCh38
NC_000006.11:g.31237309G>A , CM000668.1:g.31237309G>A GRCh37
NC_000006.10:g.31345288G>A NCBI36
NG_029422.2:g.7600C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016-7C>T MANE Select ENSP00000365402.5:n.1016-7C>T
ENST00000376228.9:c.1016-7C>T ENSP00000365402.5:n.1016-7C>T
ENST00000376237.8:c.*603-7C>T ENSP00000365412.4:n.*603-7C>T
ENST00000383329.7:c.1027C>T ENSP00000372819.3:p.Pro343Ser
ENST00000466892.5:n.135C>T
ENST00000470363.5:n.767C>T
ENST00000487245.5:n.1375-7C>T
NM_002117.5:c.1016-7C>T NP_002108.4:n.1016-7C>T
NM_002117.6:c.1016-7C>T MANE Select NP_002108.4:n.1016-7C>T