Canonical Allele Identifier: CA2078625415
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336405C= , CM000675.2:g.23336405C= GRCh38
NC_000013.10:g.23910544C= , CM000675.1:g.23910544C= GRCh37
NC_000013.9:g.22808544C= NCBI36
NG_012342.1:g.102298G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17380G= ENSP00000508399.1:n.2185+17380G=
ENST00000682944.1:c.7498G= ENSP00000507173.1:p.Glu2500=
ENST00000683210.1:c.2185+17380G= ENSP00000506739.1:n.2185+17380G=
ENST00000683270.1:c.6445+1017G= ENSP00000507624.1:n.6445+1017G=
ENST00000683367.1:c.2177-6921G= ENSP00000507780.1:n.2177-6921G=
ENST00000683489.1:c.2291+5180G= ENSP00000508403.1:n.2291+5180G=
ENST00000683680.1:c.2318+5180G= ENSP00000507223.1:n.2318+5180G=
ENST00000684163.1:c.2204-6921G= ENSP00000508262.1:n.2204-6921G=
ENST00000684196.1:n.4543-6921G=
ENST00000684325.1:c.2186-14731G= ENSP00000508121.1:n.2186-14731G=
ENST00000684385.1:c.2221-6921G= ENSP00000507855.1:n.2221-6921G=
ENST00000684497.1:c.2186-13761G= ENSP00000507057.1:n.2186-13761G=
ENST00000382292.9:c.7471G= MANE Select ENSP00000371729.3:p.Glu2491=
ENST00000423156.2:c.2186-6921G= ENSP00000390925.2:n.2186-6921G=
ENST00000455470.6:c.2431+5040G= ENSP00000406565.2:n.2431+5040G=
ENST00000382292.7:c.7471G= ENSP00000371729.3:p.Glu2491=
ENST00000382298.7:c.7471G= ENSP00000371735.3:p.Glu2491=
ENST00000402364.1:c.5221G= ENSP00000385844.1:p.Glu1741=
ENST00000423156.1:c.1058-6921G= ENSP00000390925.1:n.1058-6921G=
ENST00000455470.5:c.2129+5040G=
NM_001278055.1:c.7030G= NP_001264984.1:p.Glu2344=
NM_014363.5:c.7471G= NP_055178.3:p.Glu2491=
XM_005266338.1:c.7498G= XP_005266395.1:p.Glu2500=
XM_011535038.1:c.7522G= XP_011533340.1:p.Glu2508=
XM_011535039.1:c.7489G= XP_011533341.1:p.Glu2497=
XM_005266338.2:c.7498G= XP_005266395.1:p.Glu2500=
XM_011535039.2:c.7489G= XP_011533341.1:p.Glu2497=
XM_017020539.1:c.7462G= XP_016876028.1:p.Glu2488=
XM_024449337.1:c.7498G= XP_024305105.1:p.Glu2500=
NM_014363.6:c.7471G= MANE Select NP_055178.3:p.Glu2491=
NM_001278055.2:c.7030G= NP_001264984.1:p.Glu2344=