Canonical Allele Identifier: CA411860142
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776468

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928848C>G , CM000684.2:g.43928848C>G GRCh38
NC_000022.10:g.44324728C>G , CM000684.1:g.44324728C>G GRCh37
NC_000022.9:g.42656061C>G NCBI36
NG_008631.1:g.10110C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.445C>G MANE Select ENSP00000216180.3:p.Pro149Ala
ENST00000216180.7:c.445C>G ENSP00000216180.3:p.Pro149Ala
ENST00000406117.6:c.*77C>G ENSP00000384668.2:n.*77C>G
ENST00000423180.2:c.433C>G ENSP00000397987.2:p.Pro145Ala
ENST00000478713.1:n.479C>G
NM_025225.2:c.445C>G NP_079501.2:p.Pro149Ala
NM_025225.3:c.445C>G MANE Select NP_079501.2:p.Pro149Ala