Canonical Allele Identifier: CA2078643024
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340724C= , CM000675.2:g.23340724C= GRCh38
NC_000013.10:g.23914863C= , CM000675.1:g.23914863C= GRCh37
NC_000013.9:g.22812863C= NCBI36
NG_012342.1:g.97979G=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13061G= ENSP00000508399.1:n.2185+13061G=
ENST00000682944.1:c.3179G= ENSP00000507173.1:p.Gly1060=
ENST00000683210.1:c.2185+13061G= ENSP00000506739.1:n.2185+13061G=
ENST00000683270.1:c.3143G= ENSP00000507624.1:p.Gly1048=
ENST00000683367.1:c.2177-11240G= ENSP00000507780.1:n.2177-11240G=
ENST00000683489.1:c.2291+861G= ENSP00000508403.1:n.2291+861G=
ENST00000683680.1:c.2318+861G= ENSP00000507223.1:n.2318+861G=
ENST00000684163.1:c.2203+6087G= ENSP00000508262.1:n.2203+6087G=
ENST00000684196.1:n.4543-11240G=
ENST00000684325.1:c.2185+13061G= ENSP00000508121.1:n.2185+13061G=
ENST00000684385.1:c.2220+6087G= ENSP00000507855.1:n.2220+6087G=
ENST00000684497.1:c.2185+13061G= ENSP00000507057.1:n.2185+13061G=
ENST00000382292.9:c.3152G= MANE Select ENSP00000371729.3:p.Gly1051=
ENST00000423156.2:c.2186-11240G= ENSP00000390925.2:n.2186-11240G=
ENST00000455470.6:c.2431+721G= ENSP00000406565.2:n.2431+721G=
ENST00000382292.7:c.3152G= ENSP00000371729.3:p.Gly1051=
ENST00000382298.7:c.3152G= ENSP00000371735.3:p.Gly1051=
ENST00000402364.1:c.902G= ENSP00000385844.1:p.Gly301=
ENST00000423156.1:c.1058-11240G= ENSP00000390925.1:n.1058-11240G=
ENST00000455470.5:c.2129+721G=
NM_001278055.1:c.2711G= NP_001264984.1:p.Gly904=
NM_014363.5:c.3152G= NP_055178.3:p.Gly1051=
XM_005266338.1:c.3179G= XP_005266395.1:p.Gly1060=
XM_011535038.1:c.3203G= XP_011533340.1:p.Gly1068=
XM_011535039.1:c.3170G= XP_011533341.1:p.Gly1057=
XM_005266338.2:c.3179G= XP_005266395.1:p.Gly1060=
XM_011535039.2:c.3170G= XP_011533341.1:p.Gly1057=
XM_017020539.1:c.3143G= XP_016876028.1:p.Gly1048=
XM_024449337.1:c.3179G= XP_024305105.1:p.Gly1060=
NM_014363.6:c.3152G= MANE Select NP_055178.3:p.Gly1051=
NM_001278055.2:c.2711G= NP_001264984.1:p.Gly904=