Canonical Allele Identifier: CA2407481557
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929037C= , CM000684.2:g.43929037C= GRCh38
NC_000022.10:g.44324917C= , CM000684.1:g.44324917C= GRCh37
NC_000022.9:g.42656250C= NCBI36
NG_008631.1:g.10299C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+148C= MANE Select ENSP00000216180.3:n.486+148C=
ENST00000216180.7:c.486+148C= ENSP00000216180.3:n.486+148C=
ENST00000406117.6:c.*118+148C= ENSP00000384668.2:n.*118+148C=
ENST00000423180.2:c.474+148C= ENSP00000397987.2:n.474+148C=
ENST00000478713.1:n.520+148C=
NM_025225.2:c.486+148C= NP_079501.2:n.486+148C=
NM_025225.3:c.486+148C= MANE Select NP_079501.2:n.486+148C=
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