Canonical Allele Identifier: CA2407481467
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928871T= , CM000684.2:g.43928871T= GRCh38
NC_000022.10:g.44324751T= , CM000684.1:g.44324751T= GRCh37
NC_000022.9:g.42656084T= NCBI36
NG_008631.1:g.10133T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.468T= MANE Select ENSP00000216180.3:p.Pro156=
ENST00000216180.7:c.468T= ENSP00000216180.3:p.Pro156=
ENST00000406117.6:c.*100T= ENSP00000384668.2:n.*100T=
ENST00000423180.2:c.456T= ENSP00000397987.2:p.Pro152=
ENST00000478713.1:n.502T=
NM_025225.2:c.468T= NP_079501.2:p.Pro156=
NM_025225.3:c.468T= MANE Select NP_079501.2:p.Pro156=