Canonical Allele Identifier: CA136866929
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860505
gnomAD v4: 6-31271183-T-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.509A>T MANE Select ENSP00000365402.5:p.Lys170Met
ENST00000376228.9:c.509A>T ENSP00000365402.5:p.Lys170Met
ENST00000376237.8:c.*96A>T ENSP00000365412.4:n.*96A>T
ENST00000383329.7:c.509A>T ENSP00000372819.3:p.Lys170Met
ENST00000415537.1:c.507A>T
ENST00000484378.1:n.778A>T
ENST00000487245.5:n.868A>T
ENST00000495835.1:n.698A>T
NM_002117.5:c.509A>T NP_002108.4:p.Lys170Met
NM_002117.6:c.509A>T MANE Select NP_002108.4:p.Lys170Met