Canonical Allele Identifier: CA10277924
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs770758850

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928826C>T , CM000684.2:g.43928826C>T GRCh38
NC_000022.10:g.44324706C>T , CM000684.1:g.44324706C>T GRCh37
NC_000022.9:g.42656039C>T NCBI36
NG_008631.1:g.10088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.423C>T MANE Select ENSP00000216180.3:p.Ala141=
ENST00000216180.7:c.423C>T ENSP00000216180.3:p.Ala141=
ENST00000406117.6:c.*55C>T ENSP00000384668.2:n.*55C>T
ENST00000423180.2:c.411C>T ENSP00000397987.2:p.Ala137=
ENST00000478713.1:n.457C>T
NM_025225.2:c.423C>T NP_079501.2:p.Ala141=
NM_025225.3:c.423C>T MANE Select NP_079501.2:p.Ala141=