Canonical Allele Identifier: CA136868620
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs77376497
gnomAD v3: 6-31271620-A-G
gnomAD v4: 6-31271620-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271620A>G , CM000668.2:g.31271620A>G GRCh38
NC_000006.11:g.31239397A>G , CM000668.1:g.31239397A>G GRCh37
NC_000006.10:g.31347376A>G NCBI36
NG_029422.2:g.5512T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.322T>C MANE Select ENSP00000365402.5:p.Tyr108His
ENST00000376228.9:c.322T>C ENSP00000365402.5:p.Tyr108His
ENST00000376237.8:c.322T>C ENSP00000365412.4:p.Tyr108His
ENST00000383329.7:c.322T>C ENSP00000372819.3:p.Tyr108His
ENST00000415537.1:c.320T>C
ENST00000484378.1:n.341T>C
ENST00000487245.5:n.431T>C
ENST00000495835.1:n.511T>C
NM_002117.5:c.322T>C NP_002108.4:p.Tyr108His
NM_002117.6:c.322T>C MANE Select NP_002108.4:p.Tyr108His