Canonical Allele Identifier: CA2819114461
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929084C>A , CM000684.2:g.43929084C>A GRCh38
NC_000022.10:g.44324964C>A , CM000684.1:g.44324964C>A GRCh37
NC_000022.9:g.42656297C>A NCBI36
NG_008631.1:g.10346C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+195C>A MANE Select ENSP00000216180.3:n.486+195C>A
ENST00000216180.7:c.486+195C>A ENSP00000216180.3:n.486+195C>A
ENST00000406117.6:c.*118+195C>A ENSP00000384668.2:n.*118+195C>A
ENST00000423180.2:c.474+195C>A ENSP00000397987.2:n.474+195C>A
ENST00000478713.1:n.520+195C>A
NM_025225.2:c.486+195C>A NP_079501.2:n.486+195C>A
NM_025225.3:c.486+195C>A MANE Select NP_079501.2:n.486+195C>A
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