Canonical Allele Identifier: CA411860088
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1405167760

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928824G>A , CM000684.2:g.43928824G>A GRCh38
NC_000022.10:g.44324704G>A , CM000684.1:g.44324704G>A GRCh37
NC_000022.9:g.42656037G>A NCBI36
NG_008631.1:g.10086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421G>A MANE Select ENSP00000216180.3:p.Ala141Thr
ENST00000216180.7:c.421G>A ENSP00000216180.3:p.Ala141Thr
ENST00000406117.6:c.*53G>A ENSP00000384668.2:n.*53G>A
ENST00000423180.2:c.409G>A ENSP00000397987.2:p.Ala137Thr
ENST00000478713.1:n.455G>A
NM_025225.2:c.421G>A NP_079501.2:p.Ala141Thr
NM_025225.3:c.421G>A MANE Select NP_079501.2:p.Ala141Thr