Canonical Allele Identifier: CA2078627940
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337732T= , CM000675.2:g.23337732T= GRCh38
NC_000013.10:g.23911871T= , CM000675.1:g.23911871T= GRCh37
NC_000013.9:g.22809871T= NCBI36
NG_012342.1:g.100971A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16053A= ENSP00000508399.1:n.2185+16053A=
ENST00000682944.1:c.6171A= ENSP00000507173.1:p.Glu2057=
ENST00000683210.1:c.2185+16053A= ENSP00000506739.1:n.2185+16053A=
ENST00000683270.1:c.6135A= ENSP00000507624.1:p.Glu2045=
ENST00000683367.1:c.2177-8248A= ENSP00000507780.1:n.2177-8248A=
ENST00000683489.1:c.2291+3853A= ENSP00000508403.1:n.2291+3853A=
ENST00000683680.1:c.2318+3853A= ENSP00000507223.1:n.2318+3853A=
ENST00000684163.1:c.2204-8248A= ENSP00000508262.1:n.2204-8248A=
ENST00000684196.1:n.4543-8248A=
ENST00000684325.1:c.2185+16053A= ENSP00000508121.1:n.2185+16053A=
ENST00000684385.1:c.2221-8248A= ENSP00000507855.1:n.2221-8248A=
ENST00000684497.1:c.2186-15088A= ENSP00000507057.1:n.2186-15088A=
ENST00000382292.9:c.6144A= MANE Select ENSP00000371729.3:p.Glu2048=
ENST00000423156.2:c.2186-8248A= ENSP00000390925.2:n.2186-8248A=
ENST00000455470.6:c.2431+3713A= ENSP00000406565.2:n.2431+3713A=
ENST00000382292.7:c.6144A= ENSP00000371729.3:p.Glu2048=
ENST00000382298.7:c.6144A= ENSP00000371735.3:p.Glu2048=
ENST00000402364.1:c.3894A= ENSP00000385844.1:p.Glu1298=
ENST00000423156.1:c.1058-8248A= ENSP00000390925.1:n.1058-8248A=
ENST00000455470.5:c.2129+3713A=
NM_001278055.1:c.5703A= NP_001264984.1:p.Glu1901=
NM_014363.5:c.6144A= NP_055178.3:p.Glu2048=
XM_005266338.1:c.6171A= XP_005266395.1:p.Glu2057=
XM_011535038.1:c.6195A= XP_011533340.1:p.Glu2065=
XM_011535039.1:c.6162A= XP_011533341.1:p.Glu2054=
XM_005266338.2:c.6171A= XP_005266395.1:p.Glu2057=
XM_011535039.2:c.6162A= XP_011533341.1:p.Glu2054=
XM_017020539.1:c.6135A= XP_016876028.1:p.Glu2045=
XM_024449337.1:c.6171A= XP_024305105.1:p.Glu2057=
NM_014363.6:c.6144A= MANE Select NP_055178.3:p.Glu2048=
NM_001278055.2:c.5703A= NP_001264984.1:p.Glu1901=