Canonical Allele Identifier: CA411860131
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928843T>A , CM000684.2:g.43928843T>A GRCh38
NC_000022.10:g.44324723T>A , CM000684.1:g.44324723T>A GRCh37
NC_000022.9:g.42656056T>A NCBI36
NG_008631.1:g.10105T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.440T>A MANE Select ENSP00000216180.3:p.Phe147Tyr
ENST00000216180.7:c.440T>A ENSP00000216180.3:p.Phe147Tyr
ENST00000406117.6:c.*72T>A ENSP00000384668.2:n.*72T>A
ENST00000423180.2:c.428T>A ENSP00000397987.2:p.Phe143Tyr
ENST00000478713.1:n.474T>A
NM_025225.2:c.440T>A NP_079501.2:p.Phe147Tyr
NM_025225.3:c.440T>A MANE Select NP_079501.2:p.Phe147Tyr