Canonical Allele Identifier: CA515083184
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342241T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946361T>C , CM000684.2:g.43946361T>C GRCh38
NC_000022.10:g.44342241T>C , CM000684.1:g.44342241T>C GRCh37
NC_000022.9:g.42673574T>C NCBI36
NG_008631.1:g.27623T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1425T>C MANE Select ENSP00000216180.3:p.Phe475=
ENST00000216180.7:c.1425T>C ENSP00000216180.3:p.Phe475=
ENST00000406117.6:c.*849+1566T>C ENSP00000384668.2:n.*849+1566T>C
ENST00000423180.2:c.1413T>C ENSP00000397987.2:p.Phe471=
NM_025225.2:c.1425T>C NP_079501.2:p.Phe475=
NM_025225.3:c.1425T>C MANE Select NP_079501.2:p.Phe475=
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