Canonical Allele Identifier: CA2738212216

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2146776131

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928750A>T , CM000684.2:g.43928750A>T	GRCh38
NC_000022.10:g.44324630A>T , CM000684.1:g.44324630A>T	GRCh37
NC_000022.9:g.42655963A>T	NCBI36
NG_008631.1:g.10012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-74A>T MANE Select	ENSP00000216180.3:n.421-74A>T
ENST00000216180.7:c.421-74A>T	ENSP00000216180.3:n.421-74A>T
ENST00000406117.6:c.*53-74A>T	ENSP00000384668.2:n.*53-74A>T
ENST00000423180.2:c.409-74A>T	ENSP00000397987.2:n.409-74A>T
ENST00000478713.1:n.455-74A>T
NM_025225.2:c.421-74A>T	NP_079501.2:n.421-74A>T
NM_025225.3:c.421-74A>T MANE Select	NP_079501.2:n.421-74A>T