Canonical Allele Identifier: CA2407481386
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049941318
gnomAD v4: 22-43928701-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928701C>A , CM000684.2:g.43928701C>A GRCh38
NC_000022.10:g.44324581C>A , CM000684.1:g.44324581C>A GRCh37
NC_000022.9:g.42655914C>A NCBI36
NG_008631.1:g.9963C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.421-123C>A MANE Select ENSP00000216180.3:n.421-123C>A
ENST00000216180.7:c.421-123C>A ENSP00000216180.3:n.421-123C>A
ENST00000406117.6:c.*53-123C>A ENSP00000384668.2:n.*53-123C>A
ENST00000423180.2:c.409-123C>A ENSP00000397987.2:n.409-123C>A
ENST00000478713.1:n.455-123C>A
NM_025225.2:c.421-123C>A NP_079501.2:n.421-123C>A
NM_025225.3:c.421-123C>A MANE Select NP_079501.2:n.421-123C>A
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