Canonical Allele Identifier: CA2407481448
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928824G= , CM000684.2:g.43928824G= GRCh38
NC_000022.10:g.44324704G= , CM000684.1:g.44324704G= GRCh37
NC_000022.9:g.42656037G= NCBI36
NG_008631.1:g.10086G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421G= MANE Select ENSP00000216180.3:p.Ala141=
ENST00000216180.7:c.421G= ENSP00000216180.3:p.Ala141=
ENST00000406117.6:c.*53G= ENSP00000384668.2:n.*53G=
ENST00000423180.2:c.409G= ENSP00000397987.2:p.Ala137=
ENST00000478713.1:n.455G=
NM_025225.2:c.421G= NP_079501.2:p.Ala141=
NM_025225.3:c.421G= MANE Select NP_079501.2:p.Ala141=