Canonical Allele Identifier: CA2407489709
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946315A= , CM000684.2:g.43946315A= GRCh38
NC_000022.10:g.44342195A= , CM000684.1:g.44342195A= GRCh37
NC_000022.9:g.42673528A= NCBI36
NG_008631.1:g.27577A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1379A= MANE Select ENSP00000216180.3:p.Asn460=
ENST00000216180.7:c.1379A= ENSP00000216180.3:p.Asn460=
ENST00000406117.6:c.*849+1520A= ENSP00000384668.2:n.*849+1520A=
ENST00000423180.2:c.1367A= ENSP00000397987.2:p.Asn456=
NM_025225.2:c.1379A= NP_079501.2:p.Asn460=
NM_025225.3:c.1379A= MANE Select NP_079501.2:p.Asn460=