Canonical Allele Identifier: CA363324943
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs777483601
gnomAD v3: 6-31271144-T-G
gnomAD v4: 6-31271144-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271144T>G , CM000668.2:g.31271144T>G GRCh38
NC_000006.11:g.31238921T>G , CM000668.1:g.31238921T>G GRCh37
NC_000006.10:g.31346900T>G NCBI36
NG_029422.2:g.5988A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.548A>C MANE Select ENSP00000365402.5:p.Tyr183Ser
ENST00000376228.9:c.548A>C ENSP00000365402.5:p.Tyr183Ser
ENST00000376237.8:c.*135A>C ENSP00000365412.4:n.*135A>C
ENST00000383329.7:c.548A>C ENSP00000372819.3:p.Tyr183Ser
ENST00000415537.1:c.546A>C
ENST00000484378.1:n.817A>C
ENST00000487245.5:n.907A>C
ENST00000495835.1:n.737A>C
NM_002117.5:c.548A>C NP_002108.4:p.Tyr183Ser
NM_002117.6:c.548A>C MANE Select NP_002108.4:p.Tyr183Ser