Canonical Allele Identifier: CA2407481567
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929060C= , CM000684.2:g.43929060C= GRCh38
NC_000022.10:g.44324940C= , CM000684.1:g.44324940C= GRCh37
NC_000022.9:g.42656273C= NCBI36
NG_008631.1:g.10322C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+171C= MANE Select ENSP00000216180.3:n.486+171C=
ENST00000216180.7:c.486+171C= ENSP00000216180.3:n.486+171C=
ENST00000406117.6:c.*118+171C= ENSP00000384668.2:n.*118+171C=
ENST00000423180.2:c.474+171C= ENSP00000397987.2:n.474+171C=
ENST00000478713.1:n.520+171C=
NM_025225.2:c.486+171C= NP_079501.2:n.486+171C=
NM_025225.3:c.486+171C= MANE Select NP_079501.2:n.486+171C=
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