Canonical Allele Identifier: CA2407482054
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930026A= , CM000684.2:g.43930026A= GRCh38
NC_000022.10:g.44325906A= , CM000684.1:g.44325906A= GRCh37
NC_000022.9:g.42657239A= NCBI36
NG_008631.1:g.11288A=

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.486+1137A= MANE Select ENSP00000216180.3:n.486+1137A=
ENST00000216180.7:c.486+1137A= ENSP00000216180.3:n.486+1137A=
ENST00000406117.6:c.*118+1137A= ENSP00000384668.2:n.*118+1137A=
ENST00000423180.2:c.474+1137A= ENSP00000397987.2:n.474+1137A=
ENST00000478713.1:n.520+1137A=
NM_025225.2:c.486+1137A= NP_079501.2:n.486+1137A=
NM_025225.3:c.486+1137A= MANE Select NP_079501.2:n.486+1137A=
Search 100 bp 5'
Search 100 bp 3'