Canonical Allele Identifier: CA449790362
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860510
gnomAD v3: 6-31271173-C-A
gnomAD v4: 6-31271173-C-A
MyVariant Identifiers: chr6:g.31238950C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271173C>A , CM000668.2:g.31271173C>A GRCh38
NC_000006.11:g.31238950C>A , CM000668.1:g.31238950C>A GRCh37
NC_000006.10:g.31346929C>A NCBI36
NG_029422.2:g.5959G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.519G>T MANE Select ENSP00000365402.5:p.Ala173=
ENST00000376228.9:c.519G>T ENSP00000365402.5:p.Ala173=
ENST00000376237.8:c.*106G>T ENSP00000365412.4:n.*106G>T
ENST00000383329.7:c.519G>T ENSP00000372819.3:p.Ala173=
ENST00000415537.1:c.517G>T
ENST00000484378.1:n.788G>T
ENST00000487245.5:n.878G>T
ENST00000495835.1:n.708G>T
NM_002117.5:c.519G>T NP_002108.4:p.Ala173=
NM_002117.6:c.519G>T MANE Select NP_002108.4:p.Ala173=