Canonical Allele Identifier: CA411860113
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928835T>G , CM000684.2:g.43928835T>G GRCh38
NC_000022.10:g.44324715T>G , CM000684.1:g.44324715T>G GRCh37
NC_000022.9:g.42656048T>G NCBI36
NG_008631.1:g.10097T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.432T>G MANE Select ENSP00000216180.3:p.Cys144Trp
ENST00000216180.7:c.432T>G ENSP00000216180.3:p.Cys144Trp
ENST00000406117.6:c.*64T>G ENSP00000384668.2:n.*64T>G
ENST00000423180.2:c.420T>G ENSP00000397987.2:p.Cys140Trp
ENST00000478713.1:n.466T>G
NM_025225.2:c.432T>G NP_079501.2:p.Cys144Trp
NM_025225.3:c.432T>G MANE Select NP_079501.2:p.Cys144Trp