Canonical Allele Identifier: CA2539541804
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928989-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928989C>T , CM000684.2:g.43928989C>T GRCh38
NC_000022.10:g.44324869C>T , CM000684.1:g.44324869C>T GRCh37
NC_000022.9:g.42656202C>T NCBI36
NG_008631.1:g.10251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+100C>T MANE Select ENSP00000216180.3:n.486+100C>T
ENST00000216180.7:c.486+100C>T ENSP00000216180.3:n.486+100C>T
ENST00000406117.6:c.*118+100C>T ENSP00000384668.2:n.*118+100C>T
ENST00000423180.2:c.474+100C>T ENSP00000397987.2:n.474+100C>T
ENST00000478713.1:n.520+100C>T
NM_025225.2:c.486+100C>T NP_079501.2:n.486+100C>T
NM_025225.3:c.486+100C>T MANE Select NP_079501.2:n.486+100C>T
Search 100 bp 5'
Search 100 bp 3'