Canonical Allele Identifier: CA411847630
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342109C>A (hg19) chr22:g.43946229C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946229C>A , CM000684.2:g.43946229C>A GRCh38
NC_000022.10:g.44342109C>A , CM000684.1:g.44342109C>A GRCh37
NC_000022.9:g.42673442C>A NCBI36
NG_008631.1:g.27491C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1293C>A MANE Select ENSP00000216180.3:p.Cys431Ter
ENST00000216180.7:c.1293C>A ENSP00000216180.3:p.Cys431Ter
ENST00000406117.6:c.*849+1434C>A ENSP00000384668.2:n.*849+1434C>A
ENST00000423180.2:c.1281C>A ENSP00000397987.2:p.Cys427Ter
NM_025225.2:c.1293C>A NP_079501.2:p.Cys431Ter
NM_025225.3:c.1293C>A MANE Select NP_079501.2:p.Cys431Ter
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