Canonical Allele Identifier: CA514856653
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049942748
gnomAD v3: 22-43928862-C-T
gnomAD v4: 22-43928862-C-T
MyVariant Identifiers: chr22:g.44324742C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928862C>T , CM000684.2:g.43928862C>T GRCh38
NC_000022.10:g.44324742C>T , CM000684.1:g.44324742C>T GRCh37
NC_000022.9:g.42656075C>T NCBI36
NG_008631.1:g.10124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.459C>T MANE Select ENSP00000216180.3:p.Gly153=
ENST00000216180.7:c.459C>T ENSP00000216180.3:p.Gly153=
ENST00000406117.6:c.*91C>T ENSP00000384668.2:n.*91C>T
ENST00000423180.2:c.447C>T ENSP00000397987.2:p.Gly149=
ENST00000478713.1:n.493C>T
NM_025225.2:c.459C>T NP_079501.2:p.Gly153=
NM_025225.3:c.459C>T MANE Select NP_079501.2:p.Gly153=
Search 100 bp 5'
Search 100 bp 3'