Canonical Allele Identifier: CA411848017
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342213C>A (hg19) chr22:g.43946333C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946333C>A , CM000684.2:g.43946333C>A GRCh38
NC_000022.10:g.44342213C>A , CM000684.1:g.44342213C>A GRCh37
NC_000022.9:g.42673546C>A NCBI36
NG_008631.1:g.27595C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1397C>A MANE Select ENSP00000216180.3:p.Ala466Asp
ENST00000216180.7:c.1397C>A ENSP00000216180.3:p.Ala466Asp
ENST00000406117.6:c.*849+1538C>A ENSP00000384668.2:n.*849+1538C>A
ENST00000423180.2:c.1385C>A ENSP00000397987.2:p.Ala462Asp
NM_025225.2:c.1397C>A NP_079501.2:p.Ala466Asp
NM_025225.3:c.1397C>A MANE Select NP_079501.2:p.Ala466Asp
Search 100 bp 5'
Search 100 bp 3'