Canonical Allele Identifier: CA411848177
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946374A>C , CM000684.2:g.43946374A>C GRCh38
NC_000022.10:g.44342254A>C , CM000684.1:g.44342254A>C GRCh37
NC_000022.9:g.42673587A>C NCBI36
NG_008631.1:g.27636A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1438A>C MANE Select ENSP00000216180.3:p.Ser480Arg
ENST00000216180.7:c.1438A>C ENSP00000216180.3:p.Ser480Arg
ENST00000406117.6:c.*849+1579A>C ENSP00000384668.2:n.*849+1579A>C
ENST00000423180.2:c.1426A>C ENSP00000397987.2:p.Ser476Arg
NM_025225.2:c.1438A>C NP_079501.2:p.Ser480Arg
NM_025225.3:c.1438A>C MANE Select NP_079501.2:p.Ser480Arg