Canonical Allele Identifier: CA2078642828
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340582G= , CM000675.2:g.23340582G= GRCh38
NC_000013.10:g.23914721G= , CM000675.1:g.23914721G= GRCh37
NC_000013.9:g.22812721G= NCBI36
NG_012342.1:g.98121C=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13203C= ENSP00000508399.1:n.2185+13203C=
ENST00000682944.1:c.3321C= ENSP00000507173.1:p.Leu1107=
ENST00000683210.1:c.2185+13203C= ENSP00000506739.1:n.2185+13203C=
ENST00000683270.1:c.3285C= ENSP00000507624.1:p.Leu1095=
ENST00000683367.1:c.2177-11098C= ENSP00000507780.1:n.2177-11098C=
ENST00000683489.1:c.2291+1003C= ENSP00000508403.1:n.2291+1003C=
ENST00000683680.1:c.2318+1003C= ENSP00000507223.1:n.2318+1003C=
ENST00000684163.1:c.2203+6229C= ENSP00000508262.1:n.2203+6229C=
ENST00000684196.1:n.4543-11098C=
ENST00000684325.1:c.2185+13203C= ENSP00000508121.1:n.2185+13203C=
ENST00000684385.1:c.2220+6229C= ENSP00000507855.1:n.2220+6229C=
ENST00000684497.1:c.2185+13203C= ENSP00000507057.1:n.2185+13203C=
ENST00000382292.9:c.3294C= MANE Select ENSP00000371729.3:p.Leu1098=
ENST00000423156.2:c.2186-11098C= ENSP00000390925.2:n.2186-11098C=
ENST00000455470.6:c.2431+863C= ENSP00000406565.2:n.2431+863C=
ENST00000382292.7:c.3294C= ENSP00000371729.3:p.Leu1098=
ENST00000382298.7:c.3294C= ENSP00000371735.3:p.Leu1098=
ENST00000402364.1:c.1044C= ENSP00000385844.1:p.Leu348=
ENST00000423156.1:c.1058-11098C= ENSP00000390925.1:n.1058-11098C=
ENST00000455470.5:c.2129+863C=
NM_001278055.1:c.2853C= NP_001264984.1:p.Leu951=
NM_014363.5:c.3294C= NP_055178.3:p.Leu1098=
XM_005266338.1:c.3321C= XP_005266395.1:p.Leu1107=
XM_011535038.1:c.3345C= XP_011533340.1:p.Leu1115=
XM_011535039.1:c.3312C= XP_011533341.1:p.Leu1104=
XM_005266338.2:c.3321C= XP_005266395.1:p.Leu1107=
XM_011535039.2:c.3312C= XP_011533341.1:p.Leu1104=
XM_017020539.1:c.3285C= XP_016876028.1:p.Leu1095=
XM_024449337.1:c.3321C= XP_024305105.1:p.Leu1107=
NM_014363.6:c.3294C= MANE Select NP_055178.3:p.Leu1098=
NM_001278055.2:c.2853C= NP_001264984.1:p.Leu951=