Canonical Allele Identifier: CA515082927
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342085G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946205G>A , CM000684.2:g.43946205G>A GRCh38
NC_000022.10:g.44342085G>A , CM000684.1:g.44342085G>A GRCh37
NC_000022.9:g.42673418G>A NCBI36
NG_008631.1:g.27467G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1269G>A MANE Select ENSP00000216180.3:p.Gln423=
ENST00000216180.7:c.1269G>A ENSP00000216180.3:p.Gln423=
ENST00000406117.6:c.*849+1410G>A ENSP00000384668.2:n.*849+1410G>A
ENST00000423180.2:c.1257G>A ENSP00000397987.2:p.Gln419=
NM_025225.2:c.1269G>A NP_079501.2:p.Gln423=
NM_025225.3:c.1269G>A MANE Select NP_079501.2:p.Gln423=
Search 100 bp 5'
Search 100 bp 3'