Canonical Allele Identifier: CA387514775
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 426329
dbSNP Id: rs1085307569

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334590C>T , CM000675.2:g.23334590C>T GRCh38
NC_000013.10:g.23908729C>T , CM000675.1:g.23908729C>T GRCh37
NC_000013.9:g.22806729C>T NCBI36
NG_012342.1:g.104113G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19195G>A ENSP00000508399.1:n.2185+19195G>A
ENST00000682944.1:c.9313G>A ENSP00000507173.1:p.Ala3105Thr
ENST00000683210.1:c.2185+19195G>A ENSP00000506739.1:n.2185+19195G>A
ENST00000683270.1:c.6445+2832G>A ENSP00000507624.1:n.6445+2832G>A
ENST00000683367.1:c.2177-5106G>A ENSP00000507780.1:n.2177-5106G>A
ENST00000683489.1:c.2292-4638G>A ENSP00000508403.1:n.2292-4638G>A
ENST00000683680.1:c.2319-4638G>A ENSP00000507223.1:n.2319-4638G>A
ENST00000684163.1:c.2204-5106G>A ENSP00000508262.1:n.2204-5106G>A
ENST00000684196.1:n.4543-5106G>A
ENST00000684325.1:c.2186-12916G>A ENSP00000508121.1:n.2186-12916G>A
ENST00000684385.1:c.2221-5106G>A ENSP00000507855.1:n.2221-5106G>A
ENST00000684497.1:c.2186-11946G>A ENSP00000507057.1:n.2186-11946G>A
ENST00000382292.9:c.9286G>A MANE Select ENSP00000371729.3:p.Ala3096Thr
ENST00000423156.2:c.2186-5106G>A ENSP00000390925.2:n.2186-5106G>A
ENST00000455470.6:c.2432-5106G>A ENSP00000406565.2:n.2432-5106G>A
ENST00000382292.7:c.9286G>A ENSP00000371729.3:p.Ala3096Thr
ENST00000382298.7:c.9286G>A ENSP00000371735.3:p.Ala3096Thr
ENST00000402364.1:c.7036G>A ENSP00000385844.1:p.Ala2346Thr
ENST00000423156.1:c.1058-5106G>A ENSP00000390925.1:n.1058-5106G>A
ENST00000455470.5:c.2130-5106G>A
NM_001278055.1:c.8845G>A NP_001264984.1:p.Ala2949Thr
NM_014363.5:c.9286G>A NP_055178.3:p.Ala3096Thr
XM_005266338.1:c.9313G>A XP_005266395.1:p.Ala3105Thr
XM_011535038.1:c.9337G>A XP_011533340.1:p.Ala3113Thr
XM_011535039.1:c.9304G>A XP_011533341.1:p.Ala3102Thr
XM_005266338.2:c.9313G>A XP_005266395.1:p.Ala3105Thr
XM_011535039.2:c.9304G>A XP_011533341.1:p.Ala3102Thr
XM_017020539.1:c.9277G>A XP_016876028.1:p.Ala3093Thr
XM_024449337.1:c.9313G>A XP_024305105.1:p.Ala3105Thr
NM_014363.6:c.9286G>A MANE Select NP_055178.3:p.Ala3096Thr
NM_001278055.2:c.8845G>A NP_001264984.1:p.Ala2949Thr