Canonical Allele Identifier: CA411860169
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049942704
COSMIC: COSM4716226
MyVariant Identifiers: chr22:g.44324738G>A (hg19) chr22:g.43928858G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928858G>A , CM000684.2:g.43928858G>A GRCh38
NC_000022.10:g.44324738G>A , CM000684.1:g.44324738G>A GRCh37
NC_000022.9:g.42656071G>A NCBI36
NG_008631.1:g.10120G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.455G>A MANE Select ENSP00000216180.3:p.Ser152Asn
ENST00000216180.7:c.455G>A ENSP00000216180.3:p.Ser152Asn
ENST00000406117.6:c.*87G>A ENSP00000384668.2:n.*87G>A
ENST00000423180.2:c.443G>A ENSP00000397987.2:p.Ser148Asn
ENST00000478713.1:n.489G>A
NM_025225.2:c.455G>A NP_079501.2:p.Ser152Asn
NM_025225.3:c.455G>A MANE Select NP_079501.2:p.Ser152Asn
Search 100 bp 5'
Search 100 bp 3'