Canonical Allele Identifier: CA387525991
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338581T>G , CM000675.2:g.23338581T>G GRCh38
NC_000013.10:g.23912720T>G , CM000675.1:g.23912720T>G GRCh37
NC_000013.9:g.22810720T>G NCBI36
NG_012342.1:g.100122A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15204A>C ENSP00000508399.1:n.2185+15204A>C
ENST00000682944.1:c.5322A>C ENSP00000507173.1:p.Glu1774Asp
ENST00000683210.1:c.2185+15204A>C ENSP00000506739.1:n.2185+15204A>C
ENST00000683270.1:c.5286A>C ENSP00000507624.1:p.Glu1762Asp
ENST00000683367.1:c.2177-9097A>C ENSP00000507780.1:n.2177-9097A>C
ENST00000683489.1:c.2291+3004A>C ENSP00000508403.1:n.2291+3004A>C
ENST00000683680.1:c.2318+3004A>C ENSP00000507223.1:n.2318+3004A>C
ENST00000684163.1:c.2203+8230A>C ENSP00000508262.1:n.2203+8230A>C
ENST00000684196.1:n.4543-9097A>C
ENST00000684325.1:c.2185+15204A>C ENSP00000508121.1:n.2185+15204A>C
ENST00000684385.1:c.2220+8230A>C ENSP00000507855.1:n.2220+8230A>C
ENST00000684497.1:c.2185+15204A>C ENSP00000507057.1:n.2185+15204A>C
ENST00000382292.9:c.5295A>C MANE Select ENSP00000371729.3:p.Glu1765Asp
ENST00000423156.2:c.2186-9097A>C ENSP00000390925.2:n.2186-9097A>C
ENST00000455470.6:c.2431+2864A>C ENSP00000406565.2:n.2431+2864A>C
ENST00000382292.7:c.5295A>C ENSP00000371729.3:p.Glu1765Asp
ENST00000382298.7:c.5295A>C ENSP00000371735.3:p.Glu1765Asp
ENST00000402364.1:c.3045A>C ENSP00000385844.1:p.Glu1015Asp
ENST00000423156.1:c.1058-9097A>C ENSP00000390925.1:n.1058-9097A>C
ENST00000455470.5:c.2129+2864A>C
NM_001278055.1:c.4854A>C NP_001264984.1:p.Glu1618Asp
NM_014363.5:c.5295A>C NP_055178.3:p.Glu1765Asp
XM_005266338.1:c.5322A>C XP_005266395.1:p.Glu1774Asp
XM_011535038.1:c.5346A>C XP_011533340.1:p.Glu1782Asp
XM_011535039.1:c.5313A>C XP_011533341.1:p.Glu1771Asp
XM_005266338.2:c.5322A>C XP_005266395.1:p.Glu1774Asp
XM_011535039.2:c.5313A>C XP_011533341.1:p.Glu1771Asp
XM_017020539.1:c.5286A>C XP_016876028.1:p.Glu1762Asp
XM_024449337.1:c.5322A>C XP_024305105.1:p.Glu1774Asp
NM_014363.6:c.5295A>C MANE Select NP_055178.3:p.Glu1765Asp
NM_001278055.2:c.4854A>C NP_001264984.1:p.Glu1618Asp