Canonical Allele Identifier: CA2407481373
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928676C= , CM000684.2:g.43928676C= GRCh38
NC_000022.10:g.44324556C= , CM000684.1:g.44324556C= GRCh37
NC_000022.9:g.42655889C= NCBI36
NG_008631.1:g.9938C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-148C= MANE Select ENSP00000216180.3:n.421-148C=
ENST00000216180.7:c.421-148C= ENSP00000216180.3:n.421-148C=
ENST00000406117.6:c.*53-148C= ENSP00000384668.2:n.*53-148C=
ENST00000423180.2:c.409-148C= ENSP00000397987.2:n.409-148C=
ENST00000478713.1:n.455-148C=
NM_025225.2:c.421-148C= NP_079501.2:n.421-148C=
NM_025225.3:c.421-148C= MANE Select NP_079501.2:n.421-148C=