Canonical Allele Identifier: CA363322477
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270431-A-C
gnomAD v4: 6-31270431-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270431A>C , CM000668.2:g.31270431A>C GRCh38
NC_000006.11:g.31238208A>C , CM000668.1:g.31238208A>C GRCh37
NC_000006.10:g.31346187A>C NCBI36
NG_029422.2:g.6701T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.674T>G MANE Select ENSP00000365402.5:p.Leu225Arg
ENST00000376228.9:c.674T>G ENSP00000365402.5:p.Leu225Arg
ENST00000376237.8:c.*261T>G ENSP00000365412.4:n.*261T>G
ENST00000383329.7:c.674T>G ENSP00000372819.3:p.Leu225Arg
ENST00000415537.1:c.664+8T>G
ENST00000487245.5:n.1033T>G
ENST00000495835.1:n.863T>G
NM_002117.5:c.674T>G NP_002108.4:p.Leu225Arg
NM_002117.6:c.674T>G MANE Select NP_002108.4:p.Leu225Arg