Canonical Allele Identifier: CA2407489679
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946269A= , CM000684.2:g.43946269A= GRCh38
NC_000022.10:g.44342149A= , CM000684.1:g.44342149A= GRCh37
NC_000022.9:g.42673482A= NCBI36
NG_008631.1:g.27531A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1333A= MANE Select ENSP00000216180.3:p.Thr445=
ENST00000216180.7:c.1333A= ENSP00000216180.3:p.Thr445=
ENST00000406117.6:c.*849+1474A= ENSP00000384668.2:n.*849+1474A=
ENST00000423180.2:c.1321A= ENSP00000397987.2:p.Thr441=
NM_025225.2:c.1333A= NP_079501.2:p.Thr445=
NM_025225.3:c.1333A= MANE Select NP_079501.2:p.Thr445=