Canonical Allele Identifier: CA363322852
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270474-T-A
gnomAD v4: 6-31270474-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270474T>A , CM000668.2:g.31270474T>A GRCh38
NC_000006.11:g.31238251T>A , CM000668.1:g.31238251T>A GRCh37
NC_000006.10:g.31346230T>A NCBI36
NG_029422.2:g.6658A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.631A>T MANE Select ENSP00000365402.5:p.Thr211Ser
ENST00000376228.9:c.631A>T ENSP00000365402.5:p.Thr211Ser
ENST00000376237.8:c.*218A>T ENSP00000365412.4:n.*218A>T
ENST00000383329.7:c.631A>T ENSP00000372819.3:p.Thr211Ser
ENST00000415537.1:c.629A>T
ENST00000487245.5:n.990A>T
ENST00000495835.1:n.820A>T
NM_002117.5:c.631A>T NP_002108.4:p.Thr211Ser
NM_002117.6:c.631A>T MANE Select NP_002108.4:p.Thr211Ser