Canonical Allele Identifier: CA514856659
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928871-T-A
MyVariant Identifiers: chr22:g.44324751T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928871T>A , CM000684.2:g.43928871T>A GRCh38
NC_000022.10:g.44324751T>A , CM000684.1:g.44324751T>A GRCh37
NC_000022.9:g.42656084T>A NCBI36
NG_008631.1:g.10133T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.468T>A MANE Select ENSP00000216180.3:p.Pro156=
ENST00000216180.7:c.468T>A ENSP00000216180.3:p.Pro156=
ENST00000406117.6:c.*100T>A ENSP00000384668.2:n.*100T>A
ENST00000423180.2:c.456T>A ENSP00000397987.2:p.Pro152=
ENST00000478713.1:n.502T>A
NM_025225.2:c.468T>A NP_079501.2:p.Pro156=
NM_025225.3:c.468T>A MANE Select NP_079501.2:p.Pro156=
Search 100 bp 5'
Search 100 bp 3'