Canonical Allele Identifier: CA411847639
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946231C>A , CM000684.2:g.43946231C>A GRCh38
NC_000022.10:g.44342111C>A , CM000684.1:g.44342111C>A GRCh37
NC_000022.9:g.42673444C>A NCBI36
NG_008631.1:g.27493C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1295C>A MANE Select ENSP00000216180.3:p.Ser432Tyr
ENST00000216180.7:c.1295C>A ENSP00000216180.3:p.Ser432Tyr
ENST00000406117.6:c.*849+1436C>A ENSP00000384668.2:n.*849+1436C>A
ENST00000423180.2:c.1283C>A ENSP00000397987.2:p.Ser428Tyr
NM_025225.2:c.1295C>A NP_079501.2:p.Ser432Tyr
NM_025225.3:c.1295C>A MANE Select NP_079501.2:p.Ser432Tyr