Canonical Allele Identifier: CA2407481477
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928891T= , CM000684.2:g.43928891T= GRCh38
NC_000022.10:g.44324771T= , CM000684.1:g.44324771T= GRCh37
NC_000022.9:g.42656104T= NCBI36
NG_008631.1:g.10153T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+2T= MANE Select ENSP00000216180.3:n.486+2T=
ENST00000216180.7:c.486+2T= ENSP00000216180.3:n.486+2T=
ENST00000406117.6:c.*118+2T= ENSP00000384668.2:n.*118+2T=
ENST00000423180.2:c.474+2T= ENSP00000397987.2:n.474+2T=
ENST00000478713.1:n.520+2T=
NM_025225.2:c.486+2T= NP_079501.2:n.486+2T=
NM_025225.3:c.486+2T= MANE Select NP_079501.2:n.486+2T=