Canonical Allele Identifier: CA136868694
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860412
gnomAD v3: 6-31271639-G-A
gnomAD v4: 6-31271639-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271639G>A , CM000668.2:g.31271639G>A GRCh38
NC_000006.11:g.31239416G>A , CM000668.1:g.31239416G>A GRCh37
NC_000006.10:g.31347395G>A NCBI36
NG_029422.2:g.5493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.303C>T MANE Select ENSP00000365402.5:p.Ser101=
ENST00000376228.9:c.303C>T ENSP00000365402.5:p.Ser101=
ENST00000376237.8:c.303C>T ENSP00000365412.4:p.Ser101=
ENST00000383329.7:c.303C>T ENSP00000372819.3:p.Ser101=
ENST00000415537.1:c.301C>T
ENST00000484378.1:n.322C>T
ENST00000487245.5:n.412C>T
ENST00000495835.1:n.492C>T
NM_002117.5:c.303C>T NP_002108.4:p.Ser101=
NM_002117.6:c.303C>T MANE Select NP_002108.4:p.Ser101=