Canonical Allele Identifier: CA363322968
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270485-T-G
gnomAD v4: 6-31270485-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270485T>G , CM000668.2:g.31270485T>G GRCh38
NC_000006.11:g.31238262T>G , CM000668.1:g.31238262T>G GRCh37
NC_000006.10:g.31346241T>G NCBI36
NG_029422.2:g.6647A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.620A>C MANE Select ENSP00000365402.5:p.Glu207Ala
ENST00000376228.9:c.620A>C ENSP00000365402.5:p.Glu207Ala
ENST00000376237.8:c.*207A>C ENSP00000365412.4:n.*207A>C
ENST00000383329.7:c.620A>C ENSP00000372819.3:p.Glu207Ala
ENST00000415537.1:c.618A>C
ENST00000487245.5:n.979A>C
ENST00000495835.1:n.809A>C
NM_002117.5:c.620A>C NP_002108.4:p.Glu207Ala
NM_002117.6:c.620A>C MANE Select NP_002108.4:p.Glu207Ala