Canonical Allele Identifier: CA515082905
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342184C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946304C>T , CM000684.2:g.43946304C>T GRCh38
NC_000022.10:g.44342184C>T , CM000684.1:g.44342184C>T GRCh37
NC_000022.9:g.42673517C>T NCBI36
NG_008631.1:g.27566C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1368C>T MANE Select ENSP00000216180.3:p.Phe456=
ENST00000216180.7:c.1368C>T ENSP00000216180.3:p.Phe456=
ENST00000406117.6:c.*849+1509C>T ENSP00000384668.2:n.*849+1509C>T
ENST00000423180.2:c.1356C>T ENSP00000397987.2:p.Phe452=
NM_025225.2:c.1368C>T NP_079501.2:p.Phe456=
NM_025225.3:c.1368C>T MANE Select NP_079501.2:p.Phe456=
Search 100 bp 5'
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