Canonical Allele Identifier: CA2407489753
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946432T= , CM000684.2:g.43946432T= GRCh38
NC_000022.10:g.44342312T= , CM000684.1:g.44342312T= GRCh37
NC_000022.9:g.42673645T= NCBI36
NG_008631.1:g.27694T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*50T= MANE Select ENSP00000216180.3:n.*50T=
ENST00000216180.7:c.*50T= ENSP00000216180.3:n.*50T=
ENST00000406117.6:c.*849+1637T= ENSP00000384668.2:n.*849+1637T=
ENST00000423180.2:c.*50T= ENSP00000397987.2:n.*50T=
NM_025225.2:c.*50T= NP_079501.2:n.*50T=
NM_025225.3:c.*50T= MANE Select NP_079501.2:n.*50T=
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