Canonical Allele Identifier: CA3710664
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs77935220
gnomAD v2: 6-31238886-A-G
gnomAD v3: 6-31271109-A-G
gnomAD v4: 6-31271109-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271109A>G , CM000668.2:g.31271109A>G GRCh38
NC_000006.11:g.31238886A>G , CM000668.1:g.31238886A>G GRCh37
NC_000006.10:g.31346865A>G NCBI36
NG_029422.2:g.6023T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.583T>C MANE Select ENSP00000365402.5:p.Tyr195His
ENST00000376228.9:c.583T>C ENSP00000365402.5:p.Tyr195His
ENST00000376237.8:c.*170T>C ENSP00000365412.4:n.*170T>C
ENST00000383329.7:c.583T>C ENSP00000372819.3:p.Tyr195His
ENST00000415537.1:c.581T>C
ENST00000484378.1:n.852T>C
ENST00000487245.5:n.942T>C
ENST00000495835.1:n.772T>C
NM_002117.5:c.583T>C NP_002108.4:p.Tyr195His
NM_002117.6:c.583T>C MANE Select NP_002108.4:p.Tyr195His