Canonical Allele Identifier: CA2078627100
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337213T= , CM000675.2:g.23337213T= GRCh38
NC_000013.10:g.23911352T= , CM000675.1:g.23911352T= GRCh37
NC_000013.9:g.22809352T= NCBI36
NG_012342.1:g.101490A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16572A= ENSP00000508399.1:n.2185+16572A=
ENST00000682944.1:c.6690A= ENSP00000507173.1:p.Lys2230=
ENST00000683210.1:c.2185+16572A= ENSP00000506739.1:n.2185+16572A=
ENST00000683270.1:c.6445+209A= ENSP00000507624.1:n.6445+209A=
ENST00000683367.1:c.2177-7729A= ENSP00000507780.1:n.2177-7729A=
ENST00000683489.1:c.2291+4372A= ENSP00000508403.1:n.2291+4372A=
ENST00000683680.1:c.2318+4372A= ENSP00000507223.1:n.2318+4372A=
ENST00000684163.1:c.2204-7729A= ENSP00000508262.1:n.2204-7729A=
ENST00000684196.1:n.4543-7729A=
ENST00000684325.1:c.2186-15539A= ENSP00000508121.1:n.2186-15539A=
ENST00000684385.1:c.2221-7729A= ENSP00000507855.1:n.2221-7729A=
ENST00000684497.1:c.2186-14569A= ENSP00000507057.1:n.2186-14569A=
ENST00000382292.9:c.6663A= MANE Select ENSP00000371729.3:p.Lys2221=
ENST00000423156.2:c.2186-7729A= ENSP00000390925.2:n.2186-7729A=
ENST00000455470.6:c.2431+4232A= ENSP00000406565.2:n.2431+4232A=
ENST00000382292.7:c.6663A= ENSP00000371729.3:p.Lys2221=
ENST00000382298.7:c.6663A= ENSP00000371735.3:p.Lys2221=
ENST00000402364.1:c.4413A= ENSP00000385844.1:p.Lys1471=
ENST00000423156.1:c.1058-7729A= ENSP00000390925.1:n.1058-7729A=
ENST00000455470.5:c.2129+4232A=
NM_001278055.1:c.6222A= NP_001264984.1:p.Lys2074=
NM_014363.5:c.6663A= NP_055178.3:p.Lys2221=
XM_005266338.1:c.6690A= XP_005266395.1:p.Lys2230=
XM_011535038.1:c.6714A= XP_011533340.1:p.Lys2238=
XM_011535039.1:c.6681A= XP_011533341.1:p.Lys2227=
XM_005266338.2:c.6690A= XP_005266395.1:p.Lys2230=
XM_011535039.2:c.6681A= XP_011533341.1:p.Lys2227=
XM_017020539.1:c.6654A= XP_016876028.1:p.Lys2218=
XM_024449337.1:c.6690A= XP_024305105.1:p.Lys2230=
NM_014363.6:c.6663A= MANE Select NP_055178.3:p.Lys2221=
NM_001278055.2:c.6222A= NP_001264984.1:p.Lys2074=