Canonical Allele Identifier: CA2407481592
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929142C= , CM000684.2:g.43929142C= GRCh38
NC_000022.10:g.44325022C= , CM000684.1:g.44325022C= GRCh37
NC_000022.9:g.42656355C= NCBI36
NG_008631.1:g.10404C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+253C= MANE Select ENSP00000216180.3:n.486+253C=
ENST00000216180.7:c.486+253C= ENSP00000216180.3:n.486+253C=
ENST00000406117.6:c.*118+253C= ENSP00000384668.2:n.*118+253C=
ENST00000423180.2:c.474+253C= ENSP00000397987.2:n.474+253C=
ENST00000478713.1:n.520+253C=
NM_025225.2:c.486+253C= NP_079501.2:n.486+253C=
NM_025225.3:c.486+253C= MANE Select NP_079501.2:n.486+253C=
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