Canonical Allele Identifier: CA2407489758
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2050064220
gnomAD v4: 22-43946447-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946447G>A , CM000684.2:g.43946447G>A GRCh38
NC_000022.10:g.44342327G>A , CM000684.1:g.44342327G>A GRCh37
NC_000022.9:g.42673660G>A NCBI36
NG_008631.1:g.27709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*65G>A MANE Select ENSP00000216180.3:n.*65G>A
ENST00000216180.7:c.*65G>A ENSP00000216180.3:n.*65G>A
ENST00000406117.6:c.*849+1652G>A ENSP00000384668.2:n.*849+1652G>A
ENST00000423180.2:c.*65G>A ENSP00000397987.2:n.*65G>A
NM_025225.2:c.*65G>A NP_079501.2:n.*65G>A
NM_025225.3:c.*65G>A MANE Select NP_079501.2:n.*65G>A
Search 100 bp 5'
Search 100 bp 3'