Canonical Allele Identifier: CA411848131
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342241T>A (hg19) chr22:g.43946361T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946361T>A , CM000684.2:g.43946361T>A GRCh38
NC_000022.10:g.44342241T>A , CM000684.1:g.44342241T>A GRCh37
NC_000022.9:g.42673574T>A NCBI36
NG_008631.1:g.27623T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1425T>A MANE Select ENSP00000216180.3:p.Phe475Leu
ENST00000216180.7:c.1425T>A ENSP00000216180.3:p.Phe475Leu
ENST00000406117.6:c.*849+1566T>A ENSP00000384668.2:n.*849+1566T>A
ENST00000423180.2:c.1413T>A ENSP00000397987.2:p.Phe471Leu
NM_025225.2:c.1425T>A NP_079501.2:p.Phe475Leu
NM_025225.3:c.1425T>A MANE Select NP_079501.2:p.Phe475Leu
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