Canonical Allele Identifier: CA2407481459
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928858G= , CM000684.2:g.43928858G= GRCh38
NC_000022.10:g.44324738G= , CM000684.1:g.44324738G= GRCh37
NC_000022.9:g.42656071G= NCBI36
NG_008631.1:g.10120G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.455G= MANE Select ENSP00000216180.3:p.Ser152=
ENST00000216180.7:c.455G= ENSP00000216180.3:p.Ser152=
ENST00000406117.6:c.*87G= ENSP00000384668.2:n.*87G=
ENST00000423180.2:c.443G= ENSP00000397987.2:p.Ser148=
ENST00000478713.1:n.489G=
NM_025225.2:c.455G= NP_079501.2:p.Ser152=
NM_025225.3:c.455G= MANE Select NP_079501.2:p.Ser152=