Canonical Allele Identifier: CA2407481465
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928869C= , CM000684.2:g.43928869C= GRCh38
NC_000022.10:g.44324749C= , CM000684.1:g.44324749C= GRCh37
NC_000022.9:g.42656082C= NCBI36
NG_008631.1:g.10131C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.466C= MANE Select ENSP00000216180.3:p.Pro156=
ENST00000216180.7:c.466C= ENSP00000216180.3:p.Pro156=
ENST00000406117.6:c.*98C= ENSP00000384668.2:n.*98C=
ENST00000423180.2:c.454C= ENSP00000397987.2:p.Pro152=
ENST00000478713.1:n.500C=
NM_025225.2:c.466C= NP_079501.2:p.Pro156=
NM_025225.3:c.466C= MANE Select NP_079501.2:p.Pro156=