Canonical Allele Identifier: CA2078629093
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331057C= , CM000675.2:g.23331057C= GRCh38
NC_000013.10:g.23905196C= , CM000675.1:g.23905196C= GRCh37
NC_000013.9:g.22803196C= NCBI36
NG_012342.1:g.107646G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18942G= ENSP00000508399.1:n.2186-18942G=
ENST00000682944.1:c.12846G= ENSP00000507173.1:p.Leu4282=
ENST00000683210.1:c.2185+22728G= ENSP00000506739.1:n.2185+22728G=
ENST00000683270.1:c.6446-1573G= ENSP00000507624.1:n.6446-1573G=
ENST00000683367.1:c.2177-1573G= ENSP00000507780.1:n.2177-1573G=
ENST00000683489.1:c.2292-1105G= ENSP00000508403.1:n.2292-1105G=
ENST00000683680.1:c.2319-1105G= ENSP00000507223.1:n.2319-1105G=
ENST00000684163.1:c.2204-1573G= ENSP00000508262.1:n.2204-1573G=
ENST00000684196.1:n.4543-1573G=
ENST00000684325.1:c.2186-9383G= ENSP00000508121.1:n.2186-9383G=
ENST00000684385.1:c.2221-1573G= ENSP00000507855.1:n.2221-1573G=
ENST00000684497.1:c.2186-8413G= ENSP00000507057.1:n.2186-8413G=
ENST00000382292.9:c.12819G= MANE Select ENSP00000371729.3:p.Leu4273=
ENST00000423156.2:c.2186-1573G= ENSP00000390925.2:n.2186-1573G=
ENST00000455470.6:c.2432-1573G= ENSP00000406565.2:n.2432-1573G=
ENST00000382292.7:c.12819G= ENSP00000371729.3:p.Leu4273=
ENST00000382298.7:c.12819G= ENSP00000371735.3:p.Leu4273=
ENST00000402364.1:c.10569G= ENSP00000385844.1:p.Leu3523=
ENST00000423156.1:c.1058-1573G= ENSP00000390925.1:n.1058-1573G=
ENST00000455470.5:c.2130-1573G=
NM_001278055.1:c.12378G= NP_001264984.1:p.Leu4126=
NM_014363.5:c.12819G= NP_055178.3:p.Leu4273=
XM_005266338.1:c.12846G= XP_005266395.1:p.Leu4282=
XM_011535038.1:c.12870G= XP_011533340.1:p.Leu4290=
XM_011535039.1:c.12837G= XP_011533341.1:p.Leu4279=
XM_005266338.2:c.12846G= XP_005266395.1:p.Leu4282=
XM_011535039.2:c.12837G= XP_011533341.1:p.Leu4279=
XM_017020539.1:c.12810G= XP_016876028.1:p.Leu4270=
XM_024449337.1:c.12846G= XP_024305105.1:p.Leu4282=
NM_014363.6:c.12819G= MANE Select NP_055178.3:p.Leu4273=
NM_001278055.2:c.12378G= NP_001264984.1:p.Leu4126=