Canonical Allele Identifier: CA411860164
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44324737A>C (hg19) chr22:g.43928857A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928857A>C , CM000684.2:g.43928857A>C GRCh38
NC_000022.10:g.44324737A>C , CM000684.1:g.44324737A>C GRCh37
NC_000022.9:g.42656070A>C NCBI36
NG_008631.1:g.10119A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.454A>C MANE Select ENSP00000216180.3:p.Ser152Arg
ENST00000216180.7:c.454A>C ENSP00000216180.3:p.Ser152Arg
ENST00000406117.6:c.*86A>C ENSP00000384668.2:n.*86A>C
ENST00000423180.2:c.442A>C ENSP00000397987.2:p.Ser148Arg
ENST00000478713.1:n.488A>C
NM_025225.2:c.454A>C NP_079501.2:p.Ser152Arg
NM_025225.3:c.454A>C MANE Select NP_079501.2:p.Ser152Arg
Search 100 bp 5'
Search 100 bp 3'