Canonical Allele Identifier: CA359105041
Gene: CASP3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.184629452C>A , CM000666.2:g.184629452C>A GRCh38
NC_000004.11:g.185550606C>A , CM000666.1:g.185550606C>A GRCh37
NC_000004.10:g.185787600C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000700100.1:c.654G>T ENSP00000514797.1:p.Ser218=
ENST00000700101.1:c.654G>T ENSP00000514798.1:p.Ser218=
ENST00000700102.1:n.2257G>T
ENST00000700103.1:n.3619G>T
ENST00000700104.1:c.*403G>T ENSP00000514799.1:n.*403G>T
ENST00000308394.9:c.654G>T MANE Select ENSP00000311032.4:p.Ser218=
ENST00000308394.8:c.654G>T ENSP00000311032.4:p.Ser218=
ENST00000393585.6:c.533G>T ENSP00000377210.2:p.Arg178Leu
ENST00000393588.8:c.533G>T ENSP00000377213.4:p.Arg178Leu
ENST00000517513.5:c.533G>T ENSP00000428372.1:p.Arg178Leu
ENST00000523916.5:c.654G>T ENSP00000428929.1:p.Ser218=
ENST00000613118.4:c.*87G>T ENSP00000478339.1:n.*87G>T
NM_004346.3:c.654G>T NP_004337.2:p.Ser218=
NM_032991.2:c.654G>T NP_116786.1:p.Ser218=
XM_011532301.1:c.654G>T XP_011530603.1:p.Ser218=
NM_001354777.1:c.654G>T NP_001341706.1:p.Ser218=
NM_001354779.1:c.576G>T NP_001341708.1:p.Ser192=
NM_001354780.1:c.576G>T NP_001341709.1:p.Ser192=
NM_001354781.1:c.533G>T NP_001341710.1:p.Arg178Leu
NM_001354782.1:c.533G>T NP_001341711.1:p.Arg178Leu
NM_001354783.1:c.560G>T NP_001341712.1:p.Arg187Leu
NM_001354784.1:c.455G>T NP_001341713.1:p.Arg152Leu
NM_004346.4:c.654G>T MANE Select NP_004337.2:p.Ser218=
NM_001354777.2:c.654G>T NP_001341706.1:p.Ser218=
NM_001354779.2:c.576G>T NP_001341708.1:p.Ser192=
NM_001354780.2:c.576G>T NP_001341709.1:p.Ser192=
NM_001354781.2:c.533G>T NP_001341710.1:p.Arg178Leu
NM_001354782.2:c.533G>T NP_001341711.1:p.Arg178Leu
NM_001354783.2:c.560G>T NP_001341712.1:p.Arg187Leu
NM_001354784.2:c.455G>T NP_001341713.1:p.Arg152Leu
NM_032991.3:c.654G>T NP_116786.1:p.Ser218=