Canonical Allele Identifier: CA2078624755
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336082T= , CM000675.2:g.23336082T= GRCh38
NC_000013.10:g.23910221T= , CM000675.1:g.23910221T= GRCh37
NC_000013.9:g.22808221T= NCBI36
NG_012342.1:g.102621A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17703A= ENSP00000508399.1:n.2185+17703A=
ENST00000682944.1:c.7821A= ENSP00000507173.1:p.Glu2607=
ENST00000683210.1:c.2185+17703A= ENSP00000506739.1:n.2185+17703A=
ENST00000683270.1:c.6445+1340A= ENSP00000507624.1:n.6445+1340A=
ENST00000683367.1:c.2177-6598A= ENSP00000507780.1:n.2177-6598A=
ENST00000683489.1:c.2291+5503A= ENSP00000508403.1:n.2291+5503A=
ENST00000683680.1:c.2318+5503A= ENSP00000507223.1:n.2318+5503A=
ENST00000684163.1:c.2204-6598A= ENSP00000508262.1:n.2204-6598A=
ENST00000684196.1:n.4543-6598A=
ENST00000684325.1:c.2186-14408A= ENSP00000508121.1:n.2186-14408A=
ENST00000684385.1:c.2221-6598A= ENSP00000507855.1:n.2221-6598A=
ENST00000684497.1:c.2186-13438A= ENSP00000507057.1:n.2186-13438A=
ENST00000382292.9:c.7794A= MANE Select ENSP00000371729.3:p.Glu2598=
ENST00000423156.2:c.2186-6598A= ENSP00000390925.2:n.2186-6598A=
ENST00000455470.6:c.2431+5363A= ENSP00000406565.2:n.2431+5363A=
ENST00000382292.7:c.7794A= ENSP00000371729.3:p.Glu2598=
ENST00000382298.7:c.7794A= ENSP00000371735.3:p.Glu2598=
ENST00000402364.1:c.5544A= ENSP00000385844.1:p.Glu1848=
ENST00000423156.1:c.1058-6598A= ENSP00000390925.1:n.1058-6598A=
ENST00000455470.5:c.2129+5363A=
NM_001278055.1:c.7353A= NP_001264984.1:p.Glu2451=
NM_014363.5:c.7794A= NP_055178.3:p.Glu2598=
XM_005266338.1:c.7821A= XP_005266395.1:p.Glu2607=
XM_011535038.1:c.7845A= XP_011533340.1:p.Glu2615=
XM_011535039.1:c.7812A= XP_011533341.1:p.Glu2604=
XM_005266338.2:c.7821A= XP_005266395.1:p.Glu2607=
XM_011535039.2:c.7812A= XP_011533341.1:p.Glu2604=
XM_017020539.1:c.7785A= XP_016876028.1:p.Glu2595=
XM_024449337.1:c.7821A= XP_024305105.1:p.Glu2607=
NM_014363.6:c.7794A= MANE Select NP_055178.3:p.Glu2598=
NM_001278055.2:c.7353A= NP_001264984.1:p.Glu2451=