Canonical Allele Identifier: CA6910613
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 280094
dbSNP Id: rs202199411

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334368G>A , CM000675.2:g.23334368G>A GRCh38
NC_000013.10:g.23908507G>A , CM000675.1:g.23908507G>A GRCh37
NC_000013.9:g.22806507G>A NCBI36
NG_012342.1:g.104335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19417C>T ENSP00000508399.1:n.2185+19417C>T
ENST00000682944.1:c.9535C>T ENSP00000507173.1:p.Arg3179Ter
ENST00000683210.1:c.2185+19417C>T ENSP00000506739.1:n.2185+19417C>T
ENST00000683270.1:c.6445+3054C>T ENSP00000507624.1:n.6445+3054C>T
ENST00000683367.1:c.2177-4884C>T ENSP00000507780.1:n.2177-4884C>T
ENST00000683489.1:c.2292-4416C>T ENSP00000508403.1:n.2292-4416C>T
ENST00000683680.1:c.2319-4416C>T ENSP00000507223.1:n.2319-4416C>T
ENST00000684163.1:c.2204-4884C>T ENSP00000508262.1:n.2204-4884C>T
ENST00000684196.1:n.4543-4884C>T
ENST00000684325.1:c.2186-12694C>T ENSP00000508121.1:n.2186-12694C>T
ENST00000684385.1:c.2221-4884C>T ENSP00000507855.1:n.2221-4884C>T
ENST00000684497.1:c.2186-11724C>T ENSP00000507057.1:n.2186-11724C>T
ENST00000382292.9:c.9508C>T MANE Select ENSP00000371729.3:p.Arg3170Ter
ENST00000423156.2:c.2186-4884C>T ENSP00000390925.2:n.2186-4884C>T
ENST00000455470.6:c.2432-4884C>T ENSP00000406565.2:n.2432-4884C>T
ENST00000382292.7:c.9508C>T ENSP00000371729.3:p.Arg3170Ter
ENST00000382298.7:c.9508C>T ENSP00000371735.3:p.Arg3170Ter
ENST00000402364.1:c.7258C>T ENSP00000385844.1:p.Arg2420Ter
ENST00000423156.1:c.1058-4884C>T ENSP00000390925.1:n.1058-4884C>T
ENST00000455470.5:c.2130-4884C>T
NM_001278055.1:c.9067C>T NP_001264984.1:p.Arg3023Ter
NM_014363.5:c.9508C>T NP_055178.3:p.Arg3170Ter
XM_005266338.1:c.9535C>T XP_005266395.1:p.Arg3179Ter
XM_011535038.1:c.9559C>T XP_011533340.1:p.Arg3187Ter
XM_011535039.1:c.9526C>T XP_011533341.1:p.Arg3176Ter
XM_005266338.2:c.9535C>T XP_005266395.1:p.Arg3179Ter
XM_011535039.2:c.9526C>T XP_011533341.1:p.Arg3176Ter
XM_017020539.1:c.9499C>T XP_016876028.1:p.Arg3167Ter
XM_024449337.1:c.9535C>T XP_024305105.1:p.Arg3179Ter
NM_014363.6:c.9508C>T MANE Select NP_055178.3:p.Arg3170Ter
NM_001278055.2:c.9067C>T NP_001264984.1:p.Arg3023Ter