Canonical Allele Identifier: CA2407482051
Gene: PNPLA3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930022T= , CM000684.2:g.43930022T= GRCh38
NC_000022.10:g.44325902T= , CM000684.1:g.44325902T= GRCh37
NC_000022.9:g.42657235T= NCBI36
NG_008631.1:g.11284T=

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.486+1133T= MANE Select ENSP00000216180.3:n.486+1133T=
ENST00000216180.7:c.486+1133T= ENSP00000216180.3:n.486+1133T=
ENST00000406117.6:c.*118+1133T= ENSP00000384668.2:n.*118+1133T=
ENST00000423180.2:c.474+1133T= ENSP00000397987.2:n.474+1133T=
ENST00000478713.1:n.520+1133T=
NM_025225.2:c.486+1133T= NP_079501.2:n.486+1133T=
NM_025225.3:c.486+1133T= MANE Select NP_079501.2:n.486+1133T=
Search 100 bp 5'
Search 100 bp 3'