Canonical Allele Identifier: CA514856656
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44324745T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928865T>G , CM000684.2:g.43928865T>G GRCh38
NC_000022.10:g.44324745T>G , CM000684.1:g.44324745T>G GRCh37
NC_000022.9:g.42656078T>G NCBI36
NG_008631.1:g.10127T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.462T>G MANE Select ENSP00000216180.3:p.Leu154=
ENST00000216180.7:c.462T>G ENSP00000216180.3:p.Leu154=
ENST00000406117.6:c.*94T>G ENSP00000384668.2:n.*94T>G
ENST00000423180.2:c.450T>G ENSP00000397987.2:p.Leu150=
ENST00000478713.1:n.496T>G
NM_025225.2:c.462T>G NP_079501.2:p.Leu154=
NM_025225.3:c.462T>G MANE Select NP_079501.2:p.Leu154=