Canonical Allele Identifier: CA6910571
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs768400546

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334118T>A , CM000675.2:g.23334118T>A GRCh38
NC_000013.10:g.23908257T>A , CM000675.1:g.23908257T>A GRCh37
NC_000013.9:g.22806257T>A NCBI36
NG_012342.1:g.104585A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19667A>T ENSP00000508399.1:n.2185+19667A>T
ENST00000682944.1:c.9785A>T ENSP00000507173.1:p.Glu3262Val
ENST00000683210.1:c.2185+19667A>T ENSP00000506739.1:n.2185+19667A>T
ENST00000683270.1:c.6445+3304A>T ENSP00000507624.1:n.6445+3304A>T
ENST00000683367.1:c.2177-4634A>T ENSP00000507780.1:n.2177-4634A>T
ENST00000683489.1:c.2292-4166A>T ENSP00000508403.1:n.2292-4166A>T
ENST00000683680.1:c.2319-4166A>T ENSP00000507223.1:n.2319-4166A>T
ENST00000684163.1:c.2204-4634A>T ENSP00000508262.1:n.2204-4634A>T
ENST00000684196.1:n.4543-4634A>T
ENST00000684325.1:c.2186-12444A>T ENSP00000508121.1:n.2186-12444A>T
ENST00000684385.1:c.2221-4634A>T ENSP00000507855.1:n.2221-4634A>T
ENST00000684497.1:c.2186-11474A>T ENSP00000507057.1:n.2186-11474A>T
ENST00000382292.9:c.9758A>T MANE Select ENSP00000371729.3:p.Glu3253Val
ENST00000423156.2:c.2186-4634A>T ENSP00000390925.2:n.2186-4634A>T
ENST00000455470.6:c.2432-4634A>T ENSP00000406565.2:n.2432-4634A>T
ENST00000382292.7:c.9758A>T ENSP00000371729.3:p.Glu3253Val
ENST00000382298.7:c.9758A>T ENSP00000371735.3:p.Glu3253Val
ENST00000402364.1:c.7508A>T ENSP00000385844.1:p.Glu2503Val
ENST00000423156.1:c.1058-4634A>T ENSP00000390925.1:n.1058-4634A>T
ENST00000455470.5:c.2130-4634A>T
NM_001278055.1:c.9317A>T NP_001264984.1:p.Glu3106Val
NM_014363.5:c.9758A>T NP_055178.3:p.Glu3253Val
XM_005266338.1:c.9785A>T XP_005266395.1:p.Glu3262Val
XM_011535038.1:c.9809A>T XP_011533340.1:p.Glu3270Val
XM_011535039.1:c.9776A>T XP_011533341.1:p.Glu3259Val
XM_005266338.2:c.9785A>T XP_005266395.1:p.Glu3262Val
XM_011535039.2:c.9776A>T XP_011533341.1:p.Glu3259Val
XM_017020539.1:c.9749A>T XP_016876028.1:p.Glu3250Val
XM_024449337.1:c.9785A>T XP_024305105.1:p.Glu3262Val
NM_014363.6:c.9758A>T MANE Select NP_055178.3:p.Glu3253Val
NM_001278055.2:c.9317A>T NP_001264984.1:p.Glu3106Val