Canonical Allele Identifier: CA411860103
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776385
MyVariant Identifiers: chr22:g.44324711T>A (hg19) chr22:g.43928831T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928831T>A , CM000684.2:g.43928831T>A GRCh38
NC_000022.10:g.44324711T>A , CM000684.1:g.44324711T>A GRCh37
NC_000022.9:g.42656044T>A NCBI36
NG_008631.1:g.10093T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.428T>A MANE Select ENSP00000216180.3:p.Val143Glu
ENST00000216180.7:c.428T>A ENSP00000216180.3:p.Val143Glu
ENST00000406117.6:c.*60T>A ENSP00000384668.2:n.*60T>A
ENST00000423180.2:c.416T>A ENSP00000397987.2:p.Val139Glu
ENST00000478713.1:n.462T>A
NM_025225.2:c.428T>A NP_079501.2:p.Val143Glu
NM_025225.3:c.428T>A MANE Select NP_079501.2:p.Val143Glu
Search 100 bp 5'
Search 100 bp 3'