Canonical Allele Identifier: CA2078629518
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331277G= , CM000675.2:g.23331277G= GRCh38
NC_000013.10:g.23905416G= , CM000675.1:g.23905416G= GRCh37
NC_000013.9:g.22803416G= NCBI36
NG_012342.1:g.107426C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-19162C= ENSP00000508399.1:n.2186-19162C=
ENST00000682944.1:c.12626C= ENSP00000507173.1:p.Thr4209=
ENST00000683210.1:c.2185+22508C= ENSP00000506739.1:n.2185+22508C=
ENST00000683270.1:c.6446-1793C= ENSP00000507624.1:n.6446-1793C=
ENST00000683367.1:c.2177-1793C= ENSP00000507780.1:n.2177-1793C=
ENST00000683489.1:c.2292-1325C= ENSP00000508403.1:n.2292-1325C=
ENST00000683680.1:c.2319-1325C= ENSP00000507223.1:n.2319-1325C=
ENST00000684163.1:c.2204-1793C= ENSP00000508262.1:n.2204-1793C=
ENST00000684196.1:n.4543-1793C=
ENST00000684325.1:c.2186-9603C= ENSP00000508121.1:n.2186-9603C=
ENST00000684385.1:c.2221-1793C= ENSP00000507855.1:n.2221-1793C=
ENST00000684497.1:c.2186-8633C= ENSP00000507057.1:n.2186-8633C=
ENST00000382292.9:c.12599C= MANE Select ENSP00000371729.3:p.Thr4200=
ENST00000423156.2:c.2186-1793C= ENSP00000390925.2:n.2186-1793C=
ENST00000455470.6:c.2432-1793C= ENSP00000406565.2:n.2432-1793C=
ENST00000382292.7:c.12599C= ENSP00000371729.3:p.Thr4200=
ENST00000382298.7:c.12599C= ENSP00000371735.3:p.Thr4200=
ENST00000402364.1:c.10349C= ENSP00000385844.1:p.Thr3450=
ENST00000423156.1:c.1058-1793C= ENSP00000390925.1:n.1058-1793C=
ENST00000455470.5:c.2130-1793C=
NM_001278055.1:c.12158C= NP_001264984.1:p.Thr4053=
NM_014363.5:c.12599C= NP_055178.3:p.Thr4200=
XM_005266338.1:c.12626C= XP_005266395.1:p.Thr4209=
XM_011535038.1:c.12650C= XP_011533340.1:p.Thr4217=
XM_011535039.1:c.12617C= XP_011533341.1:p.Thr4206=
XM_005266338.2:c.12626C= XP_005266395.1:p.Thr4209=
XM_011535039.2:c.12617C= XP_011533341.1:p.Thr4206=
XM_017020539.1:c.12590C= XP_016876028.1:p.Thr4197=
XM_024449337.1:c.12626C= XP_024305105.1:p.Thr4209=
NM_014363.6:c.12599C= MANE Select NP_055178.3:p.Thr4200=
NM_001278055.2:c.12158C= NP_001264984.1:p.Thr4053=