Canonical Allele Identifier: CA387536664
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340721T>A , CM000675.2:g.23340721T>A GRCh38
NC_000013.10:g.23914860T>A , CM000675.1:g.23914860T>A GRCh37
NC_000013.9:g.22812860T>A NCBI36
NG_012342.1:g.97982A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13064A>T ENSP00000508399.1:n.2185+13064A>T
ENST00000682944.1:c.3182A>T ENSP00000507173.1:p.Glu1061Val
ENST00000683210.1:c.2185+13064A>T ENSP00000506739.1:n.2185+13064A>T
ENST00000683270.1:c.3146A>T ENSP00000507624.1:p.Glu1049Val
ENST00000683367.1:c.2177-11237A>T ENSP00000507780.1:n.2177-11237A>T
ENST00000683489.1:c.2291+864A>T ENSP00000508403.1:n.2291+864A>T
ENST00000683680.1:c.2318+864A>T ENSP00000507223.1:n.2318+864A>T
ENST00000684163.1:c.2203+6090A>T ENSP00000508262.1:n.2203+6090A>T
ENST00000684196.1:n.4543-11237A>T
ENST00000684325.1:c.2185+13064A>T ENSP00000508121.1:n.2185+13064A>T
ENST00000684385.1:c.2220+6090A>T ENSP00000507855.1:n.2220+6090A>T
ENST00000684497.1:c.2185+13064A>T ENSP00000507057.1:n.2185+13064A>T
ENST00000382292.9:c.3155A>T MANE Select ENSP00000371729.3:p.Glu1052Val
ENST00000423156.2:c.2186-11237A>T ENSP00000390925.2:n.2186-11237A>T
ENST00000455470.6:c.2431+724A>T ENSP00000406565.2:n.2431+724A>T
ENST00000382292.7:c.3155A>T ENSP00000371729.3:p.Glu1052Val
ENST00000382298.7:c.3155A>T ENSP00000371735.3:p.Glu1052Val
ENST00000402364.1:c.905A>T ENSP00000385844.1:p.Glu302Val
ENST00000423156.1:c.1058-11237A>T ENSP00000390925.1:n.1058-11237A>T
ENST00000455470.5:c.2129+724A>T
NM_001278055.1:c.2714A>T NP_001264984.1:p.Glu905Val
NM_014363.5:c.3155A>T NP_055178.3:p.Glu1052Val
XM_005266338.1:c.3182A>T XP_005266395.1:p.Glu1061Val
XM_011535038.1:c.3206A>T XP_011533340.1:p.Glu1069Val
XM_011535039.1:c.3173A>T XP_011533341.1:p.Glu1058Val
XM_005266338.2:c.3182A>T XP_005266395.1:p.Glu1061Val
XM_011535039.2:c.3173A>T XP_011533341.1:p.Glu1058Val
XM_017020539.1:c.3146A>T XP_016876028.1:p.Glu1049Val
XM_024449337.1:c.3182A>T XP_024305105.1:p.Glu1061Val
NM_014363.6:c.3155A>T MANE Select NP_055178.3:p.Glu1052Val
NM_001278055.2:c.2714A>T NP_001264984.1:p.Glu905Val