Canonical Allele Identifier: CA2078627649
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337470T= , CM000675.2:g.23337470T= GRCh38
NC_000013.10:g.23911609T= , CM000675.1:g.23911609T= GRCh37
NC_000013.9:g.22809609T= NCBI36
NG_012342.1:g.101233A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16315A= ENSP00000508399.1:n.2185+16315A=
ENST00000682944.1:c.6433A= ENSP00000507173.1:p.Thr2145=
ENST00000683210.1:c.2185+16315A= ENSP00000506739.1:n.2185+16315A=
ENST00000683270.1:c.6397A= ENSP00000507624.1:p.Thr2133=
ENST00000683367.1:c.2177-7986A= ENSP00000507780.1:n.2177-7986A=
ENST00000683489.1:c.2291+4115A= ENSP00000508403.1:n.2291+4115A=
ENST00000683680.1:c.2318+4115A= ENSP00000507223.1:n.2318+4115A=
ENST00000684163.1:c.2204-7986A= ENSP00000508262.1:n.2204-7986A=
ENST00000684196.1:n.4543-7986A=
ENST00000684325.1:c.2186-15796A= ENSP00000508121.1:n.2186-15796A=
ENST00000684385.1:c.2221-7986A= ENSP00000507855.1:n.2221-7986A=
ENST00000684497.1:c.2186-14826A= ENSP00000507057.1:n.2186-14826A=
ENST00000382292.9:c.6406A= MANE Select ENSP00000371729.3:p.Thr2136=
ENST00000423156.2:c.2186-7986A= ENSP00000390925.2:n.2186-7986A=
ENST00000455470.6:c.2431+3975A= ENSP00000406565.2:n.2431+3975A=
ENST00000382292.7:c.6406A= ENSP00000371729.3:p.Thr2136=
ENST00000382298.7:c.6406A= ENSP00000371735.3:p.Thr2136=
ENST00000402364.1:c.4156A= ENSP00000385844.1:p.Thr1386=
ENST00000423156.1:c.1058-7986A= ENSP00000390925.1:n.1058-7986A=
ENST00000455470.5:c.2129+3975A=
NM_001278055.1:c.5965A= NP_001264984.1:p.Thr1989=
NM_014363.5:c.6406A= NP_055178.3:p.Thr2136=
XM_005266338.1:c.6433A= XP_005266395.1:p.Thr2145=
XM_011535038.1:c.6457A= XP_011533340.1:p.Thr2153=
XM_011535039.1:c.6424A= XP_011533341.1:p.Thr2142=
XM_005266338.2:c.6433A= XP_005266395.1:p.Thr2145=
XM_011535039.2:c.6424A= XP_011533341.1:p.Thr2142=
XM_017020539.1:c.6397A= XP_016876028.1:p.Thr2133=
XM_024449337.1:c.6433A= XP_024305105.1:p.Thr2145=
NM_014363.6:c.6406A= MANE Select NP_055178.3:p.Thr2136=
NM_001278055.2:c.5965A= NP_001264984.1:p.Thr1989=