Canonical Allele Identifier: CA2407481540
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929009A= , CM000684.2:g.43929009A= GRCh38
NC_000022.10:g.44324889A= , CM000684.1:g.44324889A= GRCh37
NC_000022.9:g.42656222A= NCBI36
NG_008631.1:g.10271A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+120A= MANE Select ENSP00000216180.3:n.486+120A=
ENST00000216180.7:c.486+120A= ENSP00000216180.3:n.486+120A=
ENST00000406117.6:c.*118+120A= ENSP00000384668.2:n.*118+120A=
ENST00000423180.2:c.474+120A= ENSP00000397987.2:n.474+120A=
ENST00000478713.1:n.520+120A=
NM_025225.2:c.486+120A= NP_079501.2:n.486+120A=
NM_025225.3:c.486+120A= MANE Select NP_079501.2:n.486+120A=
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