Canonical Allele Identifier: CA482928916
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2890117
ClinVar RCV Id: RCV003750550
dbSNP Id: rs1194980400

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23375194G>A , CM000675.2:g.23375194G>A GRCh38
NC_000013.10:g.23949333G>A , CM000675.1:g.23949333G>A GRCh37
NC_000013.9:g.22847333G>A NCBI36
NG_012342.1:g.63509C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682244.1:n.669C>T
ENST00000682547.1:c.133C>T ENSP00000507735.1:p.Arg45Ter
ENST00000682775.1:c.96C>T ENSP00000508399.1:p.Arg32=
ENST00000682944.1:c.96C>T ENSP00000507173.1:p.Arg32=
ENST00000683154.1:n.234C>T
ENST00000683210.1:c.96C>T ENSP00000506739.1:p.Arg32=
ENST00000683270.1:c.87C>T ENSP00000507624.1:p.Arg29=
ENST00000683367.1:c.87C>T ENSP00000507780.1:p.Arg29=
ENST00000683489.1:c.96C>T ENSP00000508403.1:p.Arg32=
ENST00000683680.1:c.96C>T ENSP00000507223.1:p.Arg32=
ENST00000684053.1:n.213C>T
ENST00000684163.1:c.87C>T ENSP00000508262.1:p.Arg29=
ENST00000684325.1:c.96C>T ENSP00000508121.1:p.Arg32=
ENST00000684385.1:c.96C>T ENSP00000507855.1:p.Arg32=
ENST00000684497.1:c.96C>T ENSP00000507057.1:p.Arg32=
ENST00000382292.9:c.96C>T MANE Select ENSP00000371729.3:p.Arg32=
ENST00000423156.2:c.96C>T ENSP00000390925.2:p.Arg32=
ENST00000455470.6:c.96C>T ENSP00000406565.2:p.Arg32=
ENST00000382292.7:c.96C>T ENSP00000371729.3:p.Arg32=
ENST00000382298.7:c.96C>T ENSP00000371735.3:p.Arg32=
ENST00000402364.1:c.-2067C>T ENSP00000385844.1:n.-2067C>T
NM_001278055.1:c.-258C>T NP_001264984.1:n.-258C>T
NM_014363.5:c.96C>T NP_055178.3:p.Arg32=
XM_005266338.1:c.96C>T XP_005266395.1:p.Arg32=
XM_011535038.1:c.120C>T XP_011533340.1:p.Arg40=
XM_011535039.1:c.87C>T XP_011533341.1:p.Arg29=
XM_005266338.2:c.96C>T XP_005266395.1:p.Arg32=
XM_011535039.2:c.87C>T XP_011533341.1:p.Arg29=
XM_017020539.1:c.87C>T XP_016876028.1:p.Arg29=
XM_024449337.1:c.96C>T XP_024305105.1:p.Arg32=
NM_014363.6:c.96C>T MANE Select NP_055178.3:p.Arg32=
NM_001278055.2:c.-258C>T NP_001264984.1:n.-258C>T