Canonical Allele Identifier: CA363325515
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271183-T-G
gnomAD v4: 6-31271183-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271183T>G , CM000668.2:g.31271183T>G GRCh38
NC_000006.11:g.31238960T>G , CM000668.1:g.31238960T>G GRCh37
NC_000006.10:g.31346939T>G NCBI36
NG_029422.2:g.5949A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.509A>C MANE Select ENSP00000365402.5:p.Lys170Thr
ENST00000376228.9:c.509A>C ENSP00000365402.5:p.Lys170Thr
ENST00000376237.8:c.*96A>C ENSP00000365412.4:n.*96A>C
ENST00000383329.7:c.509A>C ENSP00000372819.3:p.Lys170Thr
ENST00000415537.1:c.507A>C
ENST00000484378.1:n.778A>C
ENST00000487245.5:n.868A>C
ENST00000495835.1:n.698A>C
NM_002117.5:c.509A>C NP_002108.4:p.Lys170Thr
NM_002117.6:c.509A>C MANE Select NP_002108.4:p.Lys170Thr