Canonical Allele Identifier: CA136868015
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860447
gnomAD v3: 6-31271327-A-G
gnomAD v4: 6-31271327-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271327A>G , CM000668.2:g.31271327A>G GRCh38
NC_000006.11:g.31239104A>G , CM000668.1:g.31239104A>G GRCh37
NC_000006.10:g.31347083A>G NCBI36
NG_029422.2:g.5805T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.365T>C MANE Select ENSP00000365402.5:p.Met122Thr
ENST00000376228.9:c.365T>C ENSP00000365402.5:p.Met122Thr
ENST00000376237.8:c.348T>C ENSP00000365412.4:p.Asp116=
ENST00000383329.7:c.365T>C ENSP00000372819.3:p.Met122Thr
ENST00000415537.1:c.363T>C
ENST00000484378.1:n.634T>C
ENST00000487245.5:n.724T>C
ENST00000495835.1:n.554T>C
NM_002117.5:c.365T>C NP_002108.4:p.Met122Thr
NM_002117.6:c.365T>C MANE Select NP_002108.4:p.Met122Thr