Canonical Allele Identifier: CA3710781
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1131115
gnomAD v2: 6-31239101-G-T
gnomAD v3: 6-31271324-G-T
gnomAD v4: 6-31271324-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271324G>T , CM000668.2:g.31271324G>T GRCh38
NC_000006.11:g.31239101G>T , CM000668.1:g.31239101G>T GRCh37
NC_000006.10:g.31347080G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.368C>A MANE Select ENSP00000365402.5:p.Ser123Tyr
ENST00000376228.9:c.368C>A ENSP00000365402.5:p.Ser123Tyr
ENST00000376237.8:c.351C>A ENSP00000365412.4:p.Val117=
ENST00000383329.7:c.368C>A ENSP00000372819.3:p.Ser123Tyr
ENST00000415537.1:c.366C>A
ENST00000484378.1:n.637C>A
ENST00000487245.5:n.727C>A
ENST00000495835.1:n.557C>A
NM_002117.5:c.368C>A NP_002108.4:p.Ser123Tyr
NM_002117.6:c.368C>A MANE Select NP_002108.4:p.Ser123Tyr