Canonical Allele Identifier: CA2078633502
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333712C= , CM000675.2:g.23333712C= GRCh38
NC_000013.10:g.23907851C= , CM000675.1:g.23907851C= GRCh37
NC_000013.9:g.22805851C= NCBI36
NG_012342.1:g.104991G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20073G= ENSP00000508399.1:n.2185+20073G=
ENST00000682944.1:c.10191G= ENSP00000507173.1:p.Leu3397=
ENST00000683210.1:c.2185+20073G= ENSP00000506739.1:n.2185+20073G=
ENST00000683270.1:c.6445+3710G= ENSP00000507624.1:n.6445+3710G=
ENST00000683367.1:c.2177-4228G= ENSP00000507780.1:n.2177-4228G=
ENST00000683489.1:c.2292-3760G= ENSP00000508403.1:n.2292-3760G=
ENST00000683680.1:c.2319-3760G= ENSP00000507223.1:n.2319-3760G=
ENST00000684163.1:c.2204-4228G= ENSP00000508262.1:n.2204-4228G=
ENST00000684196.1:n.4543-4228G=
ENST00000684325.1:c.2186-12038G= ENSP00000508121.1:n.2186-12038G=
ENST00000684385.1:c.2221-4228G= ENSP00000507855.1:n.2221-4228G=
ENST00000684497.1:c.2186-11068G= ENSP00000507057.1:n.2186-11068G=
ENST00000382292.9:c.10164G= MANE Select ENSP00000371729.3:p.Leu3388=
ENST00000423156.2:c.2186-4228G= ENSP00000390925.2:n.2186-4228G=
ENST00000455470.6:c.2432-4228G= ENSP00000406565.2:n.2432-4228G=
ENST00000382292.7:c.10164G= ENSP00000371729.3:p.Leu3388=
ENST00000382298.7:c.10164G= ENSP00000371735.3:p.Leu3388=
ENST00000402364.1:c.7914G= ENSP00000385844.1:p.Leu2638=
ENST00000423156.1:c.1058-4228G= ENSP00000390925.1:n.1058-4228G=
ENST00000455470.5:c.2130-4228G=
NM_001278055.1:c.9723G= NP_001264984.1:p.Leu3241=
NM_014363.5:c.10164G= NP_055178.3:p.Leu3388=
XM_005266338.1:c.10191G= XP_005266395.1:p.Leu3397=
XM_011535038.1:c.10215G= XP_011533340.1:p.Leu3405=
XM_011535039.1:c.10182G= XP_011533341.1:p.Leu3394=
XM_005266338.2:c.10191G= XP_005266395.1:p.Leu3397=
XM_011535039.2:c.10182G= XP_011533341.1:p.Leu3394=
XM_017020539.1:c.10155G= XP_016876028.1:p.Leu3385=
XM_024449337.1:c.10191G= XP_024305105.1:p.Leu3397=
NM_014363.6:c.10164G= MANE Select NP_055178.3:p.Leu3388=
NM_001278055.2:c.9723G= NP_001264984.1:p.Leu3241=