Canonical Allele Identifier: CA2078642811
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340576T= , CM000675.2:g.23340576T= GRCh38
NC_000013.10:g.23914715T= , CM000675.1:g.23914715T= GRCh37
NC_000013.9:g.22812715T= NCBI36
NG_012342.1:g.98127A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+13209A= ENSP00000508399.1:n.2185+13209A=
ENST00000682944.1:c.3327A= ENSP00000507173.1:p.Glu1109=
ENST00000683210.1:c.2185+13209A= ENSP00000506739.1:n.2185+13209A=
ENST00000683270.1:c.3291A= ENSP00000507624.1:p.Glu1097=
ENST00000683367.1:c.2177-11092A= ENSP00000507780.1:n.2177-11092A=
ENST00000683489.1:c.2291+1009A= ENSP00000508403.1:n.2291+1009A=
ENST00000683680.1:c.2318+1009A= ENSP00000507223.1:n.2318+1009A=
ENST00000684163.1:c.2203+6235A= ENSP00000508262.1:n.2203+6235A=
ENST00000684196.1:n.4543-11092A=
ENST00000684325.1:c.2185+13209A= ENSP00000508121.1:n.2185+13209A=
ENST00000684385.1:c.2220+6235A= ENSP00000507855.1:n.2220+6235A=
ENST00000684497.1:c.2185+13209A= ENSP00000507057.1:n.2185+13209A=
ENST00000382292.9:c.3300A= MANE Select ENSP00000371729.3:p.Glu1100=
ENST00000423156.2:c.2186-11092A= ENSP00000390925.2:n.2186-11092A=
ENST00000455470.6:c.2431+869A= ENSP00000406565.2:n.2431+869A=
ENST00000382292.7:c.3300A= ENSP00000371729.3:p.Glu1100=
ENST00000382298.7:c.3300A= ENSP00000371735.3:p.Glu1100=
ENST00000402364.1:c.1050A= ENSP00000385844.1:p.Glu350=
ENST00000423156.1:c.1058-11092A= ENSP00000390925.1:n.1058-11092A=
ENST00000455470.5:c.2129+869A=
NM_001278055.1:c.2859A= NP_001264984.1:p.Glu953=
NM_014363.5:c.3300A= NP_055178.3:p.Glu1100=
XM_005266338.1:c.3327A= XP_005266395.1:p.Glu1109=
XM_011535038.1:c.3351A= XP_011533340.1:p.Glu1117=
XM_011535039.1:c.3318A= XP_011533341.1:p.Glu1106=
XM_005266338.2:c.3327A= XP_005266395.1:p.Glu1109=
XM_011535039.2:c.3318A= XP_011533341.1:p.Glu1106=
XM_017020539.1:c.3291A= XP_016876028.1:p.Glu1097=
XM_024449337.1:c.3327A= XP_024305105.1:p.Glu1109=
NM_014363.6:c.3300A= MANE Select NP_055178.3:p.Glu1100=
NM_001278055.2:c.2859A= NP_001264984.1:p.Glu953=