Canonical Allele Identifier: CA2819114521
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930053G>A , CM000684.2:g.43930053G>A GRCh38
NC_000022.10:g.44325933G>A , CM000684.1:g.44325933G>A GRCh37
NC_000022.9:g.42657266G>A NCBI36
NG_008631.1:g.11315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+1164G>A MANE Select ENSP00000216180.3:n.486+1164G>A
ENST00000216180.7:c.486+1164G>A ENSP00000216180.3:n.486+1164G>A
ENST00000406117.6:c.*118+1164G>A ENSP00000384668.2:n.*118+1164G>A
ENST00000423180.2:c.474+1164G>A ENSP00000397987.2:n.474+1164G>A
ENST00000478713.1:n.520+1164G>A
NM_025225.2:c.486+1164G>A NP_079501.2:n.486+1164G>A
NM_025225.3:c.486+1164G>A MANE Select NP_079501.2:n.486+1164G>A
Search 100 bp 5'
Search 100 bp 3'