Canonical Allele Identifier: CA2657156655
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928727-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928727A>G , CM000684.2:g.43928727A>G GRCh38
NC_000022.10:g.44324607A>G , CM000684.1:g.44324607A>G GRCh37
NC_000022.9:g.42655940A>G NCBI36
NG_008631.1:g.9989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-97A>G MANE Select ENSP00000216180.3:n.421-97A>G
ENST00000216180.7:c.421-97A>G ENSP00000216180.3:n.421-97A>G
ENST00000406117.6:c.*53-97A>G ENSP00000384668.2:n.*53-97A>G
ENST00000423180.2:c.409-97A>G ENSP00000397987.2:n.409-97A>G
ENST00000478713.1:n.455-97A>G
NM_025225.2:c.421-97A>G NP_079501.2:n.421-97A>G
NM_025225.3:c.421-97A>G MANE Select NP_079501.2:n.421-97A>G
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