Canonical Allele Identifier: CA3154093
Community Standard Title: NM_004346.4(CASP3):c.73G>A (p.Glu25Lys)
Gene: CASP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.184635399C>T , CM000666.2:g.184635399C>T GRCh38
NC_000004.11:g.185556553C>T , CM000666.1:g.185556553C>T GRCh37
NC_000004.10:g.185793547C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004346.4:c.73G>A MANE Select NP_004337.2:p.Glu25Lys
ENST00000308394.9:c.73G>A MANE Select ENSP00000311032.4:p.Glu25Lys
NM_001354777.1:c.73G>A NP_001341706.1:p.Glu25Lys
NM_001354777.2:c.73G>A NP_001341706.1:p.Glu25Lys
NM_001354779.1:c.-6G>A NP_001341708.1:n.-6G>A
NM_001354779.2:c.-6G>A NP_001341708.1:n.-6G>A
NM_001354780.1:c.-6G>A NP_001341709.1:n.-6G>A
NM_001354780.2:c.-6G>A NP_001341709.1:n.-6G>A
NM_001354781.1:c.73G>A NP_001341710.1:p.Glu25Lys
NM_001354781.2:c.73G>A NP_001341710.1:p.Glu25Lys
NM_001354782.1:c.73G>A NP_001341711.1:p.Glu25Lys
NM_001354782.2:c.73G>A NP_001341711.1:p.Glu25Lys
NM_001354783.1:c.100G>A NP_001341712.1:p.Glu34Lys
NM_001354783.2:c.100G>A NP_001341712.1:p.Glu34Lys
NM_001354784.1:c.-6G>A NP_001341713.1:n.-6G>A
NM_001354784.2:c.-6G>A NP_001341713.1:n.-6G>A
NM_004346.3:c.73G>A NP_004337.2:p.Glu25Lys
NM_032991.2:c.73G>A NP_116786.1:p.Glu25Lys
NM_032991.3:c.73G>A NP_116786.1:p.Glu25Lys
ENST00000308394.8:c.73G>A ENSP00000311032.4:p.Glu25Lys
ENST00000393585.6:c.73G>A ENSP00000377210.2:p.Glu25Lys
ENST00000393588.8:c.73G>A ENSP00000377213.4:p.Glu25Lys
ENST00000447121.2:c.73G>A ENSP00000407142.2:p.Glu25Lys
ENST00000517513.5:c.73G>A ENSP00000428372.1:p.Glu25Lys
ENST00000523916.5:c.73G>A ENSP00000428929.1:p.Glu25Lys
ENST00000613118.4:c.100G>A ENSP00000478339.1:p.Glu34Lys
ENST00000700100.1:c.73G>A ENSP00000514797.1:p.Glu25Lys
ENST00000700101.1:c.73G>A ENSP00000514798.1:p.Glu25Lys
ENST00000700102.1:n.141G>A
ENST00000700103.1:n.141G>A
ENST00000700104.1:c.54-3003G>A ENSP00000514799.1:n.54-3003G>A
XM_011532301.1:c.73G>A XP_011530603.1:p.Glu25Lys