Canonical Allele Identifier: CA449790266
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41563115
gnomAD v3: 6-31271116-G-T
gnomAD v4: 6-31271116-G-T
MyVariant Identifiers: chr6:g.31238893G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271116G>T , CM000668.2:g.31271116G>T GRCh38
NC_000006.11:g.31238893G>T , CM000668.1:g.31238893G>T GRCh37
NC_000006.10:g.31346872G>T NCBI36
NG_029422.2:g.6016C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.576C>A MANE Select ENSP00000365402.5:p.Leu192=
ENST00000376228.9:c.576C>A ENSP00000365402.5:p.Leu192=
ENST00000376237.8:c.*163C>A ENSP00000365412.4:n.*163C>A
ENST00000383329.7:c.576C>A ENSP00000372819.3:p.Leu192=
ENST00000415537.1:c.574C>A
ENST00000484378.1:n.845C>A
ENST00000487245.5:n.935C>A
ENST00000495835.1:n.765C>A
NM_002117.5:c.576C>A NP_002108.4:p.Leu192=
NM_002117.6:c.576C>A MANE Select NP_002108.4:p.Leu192=