Canonical Allele Identifier: CA2407481443
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928807C= , CM000684.2:g.43928807C= GRCh38
NC_000022.10:g.44324687C= , CM000684.1:g.44324687C= GRCh37
NC_000022.9:g.42656020C= NCBI36
NG_008631.1:g.10069C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-17C= MANE Select ENSP00000216180.3:n.421-17C=
ENST00000216180.7:c.421-17C= ENSP00000216180.3:n.421-17C=
ENST00000406117.6:c.*53-17C= ENSP00000384668.2:n.*53-17C=
ENST00000423180.2:c.409-17C= ENSP00000397987.2:n.409-17C=
ENST00000478713.1:n.455-17C=
NM_025225.2:c.421-17C= NP_079501.2:n.421-17C=
NM_025225.3:c.421-17C= MANE Select NP_079501.2:n.421-17C=
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