Canonical Allele Identifier: CA2819114462
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929117T>A , CM000684.2:g.43929117T>A GRCh38
NC_000022.10:g.44324997T>A , CM000684.1:g.44324997T>A GRCh37
NC_000022.9:g.42656330T>A NCBI36
NG_008631.1:g.10379T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+228T>A MANE Select ENSP00000216180.3:n.486+228T>A
ENST00000216180.7:c.486+228T>A ENSP00000216180.3:n.486+228T>A
ENST00000406117.6:c.*118+228T>A ENSP00000384668.2:n.*118+228T>A
ENST00000423180.2:c.474+228T>A ENSP00000397987.2:n.474+228T>A
ENST00000478713.1:n.520+228T>A
NM_025225.2:c.486+228T>A NP_079501.2:n.486+228T>A
NM_025225.3:c.486+228T>A MANE Select NP_079501.2:n.486+228T>A
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