Canonical Allele Identifier: CA411860193
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928870C>G , CM000684.2:g.43928870C>G GRCh38
NC_000022.10:g.44324750C>G , CM000684.1:g.44324750C>G GRCh37
NC_000022.9:g.42656083C>G NCBI36
NG_008631.1:g.10132C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.467C>G MANE Select ENSP00000216180.3:p.Pro156Arg
ENST00000216180.7:c.467C>G ENSP00000216180.3:p.Pro156Arg
ENST00000406117.6:c.*99C>G ENSP00000384668.2:n.*99C>G
ENST00000423180.2:c.455C>G ENSP00000397987.2:p.Pro152Arg
ENST00000478713.1:n.501C>G
NM_025225.2:c.467C>G NP_079501.2:p.Pro156Arg
NM_025225.3:c.467C>G MANE Select NP_079501.2:p.Pro156Arg