Canonical Allele Identifier: CA2078625339
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336375T= , CM000675.2:g.23336375T= GRCh38
NC_000013.10:g.23910514T= , CM000675.1:g.23910514T= GRCh37
NC_000013.9:g.22808514T= NCBI36
NG_012342.1:g.102328A=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17410A= ENSP00000508399.1:n.2185+17410A=
ENST00000682944.1:c.7528A= ENSP00000507173.1:p.Lys2510=
ENST00000683210.1:c.2185+17410A= ENSP00000506739.1:n.2185+17410A=
ENST00000683270.1:c.6445+1047A= ENSP00000507624.1:n.6445+1047A=
ENST00000683367.1:c.2177-6891A= ENSP00000507780.1:n.2177-6891A=
ENST00000683489.1:c.2291+5210A= ENSP00000508403.1:n.2291+5210A=
ENST00000683680.1:c.2318+5210A= ENSP00000507223.1:n.2318+5210A=
ENST00000684163.1:c.2204-6891A= ENSP00000508262.1:n.2204-6891A=
ENST00000684196.1:n.4543-6891A=
ENST00000684325.1:c.2186-14701A= ENSP00000508121.1:n.2186-14701A=
ENST00000684385.1:c.2221-6891A= ENSP00000507855.1:n.2221-6891A=
ENST00000684497.1:c.2186-13731A= ENSP00000507057.1:n.2186-13731A=
ENST00000382292.9:c.7501A= MANE Select ENSP00000371729.3:p.Lys2501=
ENST00000423156.2:c.2186-6891A= ENSP00000390925.2:n.2186-6891A=
ENST00000455470.6:c.2431+5070A= ENSP00000406565.2:n.2431+5070A=
ENST00000382292.7:c.7501A= ENSP00000371729.3:p.Lys2501=
ENST00000382298.7:c.7501A= ENSP00000371735.3:p.Lys2501=
ENST00000402364.1:c.5251A= ENSP00000385844.1:p.Lys1751=
ENST00000423156.1:c.1058-6891A= ENSP00000390925.1:n.1058-6891A=
ENST00000455470.5:c.2129+5070A=
NM_001278055.1:c.7060A= NP_001264984.1:p.Lys2354=
NM_014363.5:c.7501A= NP_055178.3:p.Lys2501=
XM_005266338.1:c.7528A= XP_005266395.1:p.Lys2510=
XM_011535038.1:c.7552A= XP_011533340.1:p.Lys2518=
XM_011535039.1:c.7519A= XP_011533341.1:p.Lys2507=
XM_005266338.2:c.7528A= XP_005266395.1:p.Lys2510=
XM_011535039.2:c.7519A= XP_011533341.1:p.Lys2507=
XM_017020539.1:c.7492A= XP_016876028.1:p.Lys2498=
XM_024449337.1:c.7528A= XP_024305105.1:p.Lys2510=
NM_014363.6:c.7501A= MANE Select NP_055178.3:p.Lys2501=
NM_001278055.2:c.7060A= NP_001264984.1:p.Lys2354=