Canonical Allele Identifier: CA2407481321
Gene: PNPLA3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928592T= , CM000684.2:g.43928592T= GRCh38
NC_000022.10:g.44324472T= , CM000684.1:g.44324472T= GRCh37
NC_000022.9:g.42655805T= NCBI36
NG_008631.1:g.9854T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-232T= MANE Select ENSP00000216180.3:n.421-232T=
ENST00000216180.7:c.421-232T= ENSP00000216180.3:n.421-232T=
ENST00000406117.6:c.*53-232T= ENSP00000384668.2:n.*53-232T=
ENST00000423180.2:c.409-232T= ENSP00000397987.2:n.409-232T=
ENST00000478713.1:n.455-232T=
NM_025225.2:c.421-232T= NP_079501.2:n.421-232T=
NM_025225.3:c.421-232T= MANE Select NP_079501.2:n.421-232T=
Search 100 bp 5'
Search 100 bp 3'