Canonical Allele Identifier: CA483163440
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2054994
ClinVar RCV Id: RCV002933108
MyVariant Identifiers: chr13:g.23914961C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340822C>T , CM000675.2:g.23340822C>T GRCh38
NC_000013.10:g.23914961C>T , CM000675.1:g.23914961C>T GRCh37
NC_000013.9:g.22812961C>T NCBI36
NG_012342.1:g.97881G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12963G>A ENSP00000508399.1:n.2185+12963G>A
ENST00000682944.1:c.3081G>A ENSP00000507173.1:p.Glu1027=
ENST00000683210.1:c.2185+12963G>A ENSP00000506739.1:n.2185+12963G>A
ENST00000683270.1:c.3045G>A ENSP00000507624.1:p.Glu1015=
ENST00000683367.1:c.2177-11338G>A ENSP00000507780.1:n.2177-11338G>A
ENST00000683489.1:c.2291+763G>A ENSP00000508403.1:n.2291+763G>A
ENST00000683680.1:c.2318+763G>A ENSP00000507223.1:n.2318+763G>A
ENST00000684163.1:c.2203+5989G>A ENSP00000508262.1:n.2203+5989G>A
ENST00000684196.1:n.4543-11338G>A
ENST00000684325.1:c.2185+12963G>A ENSP00000508121.1:n.2185+12963G>A
ENST00000684385.1:c.2220+5989G>A ENSP00000507855.1:n.2220+5989G>A
ENST00000684497.1:c.2185+12963G>A ENSP00000507057.1:n.2185+12963G>A
ENST00000382292.9:c.3054G>A MANE Select ENSP00000371729.3:p.Glu1018=
ENST00000423156.2:c.2186-11338G>A ENSP00000390925.2:n.2186-11338G>A
ENST00000455470.6:c.2431+623G>A ENSP00000406565.2:n.2431+623G>A
ENST00000382292.7:c.3054G>A ENSP00000371729.3:p.Glu1018=
ENST00000382298.7:c.3054G>A ENSP00000371735.3:p.Glu1018=
ENST00000402364.1:c.804G>A ENSP00000385844.1:p.Glu268=
ENST00000423156.1:c.1058-11338G>A ENSP00000390925.1:n.1058-11338G>A
ENST00000455470.5:c.2129+623G>A
NM_001278055.1:c.2613G>A NP_001264984.1:p.Glu871=
NM_014363.5:c.3054G>A NP_055178.3:p.Glu1018=
XM_005266338.1:c.3081G>A XP_005266395.1:p.Glu1027=
XM_011535038.1:c.3105G>A XP_011533340.1:p.Glu1035=
XM_011535039.1:c.3072G>A XP_011533341.1:p.Glu1024=
XM_005266338.2:c.3081G>A XP_005266395.1:p.Glu1027=
XM_011535039.2:c.3072G>A XP_011533341.1:p.Glu1024=
XM_017020539.1:c.3045G>A XP_016876028.1:p.Glu1015=
XM_024449337.1:c.3081G>A XP_024305105.1:p.Glu1027=
NM_014363.6:c.3054G>A MANE Select NP_055178.3:p.Glu1018=
NM_001278055.2:c.2613G>A NP_001264984.1:p.Glu871=