Canonical Allele Identifier: CA2657156651
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928721T>A , CM000684.2:g.43928721T>A GRCh38
NC_000022.10:g.44324601T>A , CM000684.1:g.44324601T>A GRCh37
NC_000022.9:g.42655934T>A NCBI36
NG_008631.1:g.9983T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-103T>A MANE Select ENSP00000216180.3:n.421-103T>A
ENST00000216180.7:c.421-103T>A ENSP00000216180.3:n.421-103T>A
ENST00000406117.6:c.*53-103T>A ENSP00000384668.2:n.*53-103T>A
ENST00000423180.2:c.409-103T>A ENSP00000397987.2:n.409-103T>A
ENST00000478713.1:n.455-103T>A
NM_025225.2:c.421-103T>A NP_079501.2:n.421-103T>A
NM_025225.3:c.421-103T>A MANE Select NP_079501.2:n.421-103T>A