Canonical Allele Identifier: CA2407489651
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946206G= , CM000684.2:g.43946206G= GRCh38
NC_000022.10:g.44342086G= , CM000684.1:g.44342086G= GRCh37
NC_000022.9:g.42673419G= NCBI36
NG_008631.1:g.27468G=

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1270G= MANE Select ENSP00000216180.3:p.Asp424=
ENST00000216180.7:c.1270G= ENSP00000216180.3:p.Asp424=
ENST00000406117.6:c.*849+1411G= ENSP00000384668.2:n.*849+1411G=
ENST00000423180.2:c.1258G= ENSP00000397987.2:p.Asp420=
NM_025225.2:c.1270G= NP_079501.2:p.Asp424=
NM_025225.3:c.1270G= MANE Select NP_079501.2:p.Asp424=