Canonical Allele Identifier: CA2407481580
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929089G= , CM000684.2:g.43929089G= GRCh38
NC_000022.10:g.44324969G= , CM000684.1:g.44324969G= GRCh37
NC_000022.9:g.42656302G= NCBI36
NG_008631.1:g.10351G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+200G= MANE Select ENSP00000216180.3:n.486+200G=
ENST00000216180.7:c.486+200G= ENSP00000216180.3:n.486+200G=
ENST00000406117.6:c.*118+200G= ENSP00000384668.2:n.*118+200G=
ENST00000423180.2:c.474+200G= ENSP00000397987.2:n.474+200G=
ENST00000478713.1:n.520+200G=
NM_025225.2:c.486+200G= NP_079501.2:n.486+200G=
NM_025225.3:c.486+200G= MANE Select NP_079501.2:n.486+200G=
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