Canonical Allele Identifier: CA200741
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 193711
dbSNP Id: rs11839380

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335003T>C , CM000675.2:g.23335003T>C GRCh38
NC_000013.10:g.23909142T>C , CM000675.1:g.23909142T>C GRCh37
NC_000013.9:g.22807142T>C NCBI36
NG_012342.1:g.103700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18782A>G ENSP00000508399.1:n.2185+18782A>G
ENST00000682944.1:c.8900A>G ENSP00000507173.1:p.Lys2967Arg
ENST00000683210.1:c.2185+18782A>G ENSP00000506739.1:n.2185+18782A>G
ENST00000683270.1:c.6445+2419A>G ENSP00000507624.1:n.6445+2419A>G
ENST00000683367.1:c.2177-5519A>G ENSP00000507780.1:n.2177-5519A>G
ENST00000683489.1:c.2292-5051A>G ENSP00000508403.1:n.2292-5051A>G
ENST00000683680.1:c.2319-5051A>G ENSP00000507223.1:n.2319-5051A>G
ENST00000684163.1:c.2204-5519A>G ENSP00000508262.1:n.2204-5519A>G
ENST00000684196.1:n.4543-5519A>G
ENST00000684325.1:c.2186-13329A>G ENSP00000508121.1:n.2186-13329A>G
ENST00000684385.1:c.2221-5519A>G ENSP00000507855.1:n.2221-5519A>G
ENST00000684497.1:c.2186-12359A>G ENSP00000507057.1:n.2186-12359A>G
ENST00000382292.9:c.8873A>G MANE Select ENSP00000371729.3:p.Lys2958Arg
ENST00000423156.2:c.2186-5519A>G ENSP00000390925.2:n.2186-5519A>G
ENST00000455470.6:c.2432-5519A>G ENSP00000406565.2:n.2432-5519A>G
ENST00000382292.7:c.8873A>G ENSP00000371729.3:p.Lys2958Arg
ENST00000382298.7:c.8873A>G ENSP00000371735.3:p.Lys2958Arg
ENST00000402364.1:c.6623A>G ENSP00000385844.1:p.Lys2208Arg
ENST00000423156.1:c.1058-5519A>G ENSP00000390925.1:n.1058-5519A>G
ENST00000455470.5:c.2130-5519A>G
NM_001278055.1:c.8432A>G NP_001264984.1:p.Lys2811Arg
NM_014363.5:c.8873A>G NP_055178.3:p.Lys2958Arg
XM_005266338.1:c.8900A>G XP_005266395.1:p.Lys2967Arg
XM_011535038.1:c.8924A>G XP_011533340.1:p.Lys2975Arg
XM_011535039.1:c.8891A>G XP_011533341.1:p.Lys2964Arg
XM_005266338.2:c.8900A>G XP_005266395.1:p.Lys2967Arg
XM_011535039.2:c.8891A>G XP_011533341.1:p.Lys2964Arg
XM_017020539.1:c.8864A>G XP_016876028.1:p.Lys2955Arg
XM_024449337.1:c.8900A>G XP_024305105.1:p.Lys2967Arg
NM_014363.6:c.8873A>G MANE Select NP_055178.3:p.Lys2958Arg
NM_001278055.2:c.8432A>G NP_001264984.1:p.Lys2811Arg