Canonical Allele Identifier: CA6911088
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs369755884

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337487C>T , CM000675.2:g.23337487C>T GRCh38
NC_000013.10:g.23911626C>T , CM000675.1:g.23911626C>T GRCh37
NC_000013.9:g.22809626C>T NCBI36
NG_012342.1:g.101216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16298G>A ENSP00000508399.1:n.2185+16298G>A
ENST00000682944.1:c.6416G>A ENSP00000507173.1:p.Arg2139Lys
ENST00000683210.1:c.2185+16298G>A ENSP00000506739.1:n.2185+16298G>A
ENST00000683270.1:c.6380G>A ENSP00000507624.1:p.Arg2127Lys
ENST00000683367.1:c.2177-8003G>A ENSP00000507780.1:n.2177-8003G>A
ENST00000683489.1:c.2291+4098G>A ENSP00000508403.1:n.2291+4098G>A
ENST00000683680.1:c.2318+4098G>A ENSP00000507223.1:n.2318+4098G>A
ENST00000684163.1:c.2204-8003G>A ENSP00000508262.1:n.2204-8003G>A
ENST00000684196.1:n.4543-8003G>A
ENST00000684325.1:c.2186-15813G>A ENSP00000508121.1:n.2186-15813G>A
ENST00000684385.1:c.2221-8003G>A ENSP00000507855.1:n.2221-8003G>A
ENST00000684497.1:c.2186-14843G>A ENSP00000507057.1:n.2186-14843G>A
ENST00000382292.9:c.6389G>A MANE Select ENSP00000371729.3:p.Arg2130Lys
ENST00000423156.2:c.2186-8003G>A ENSP00000390925.2:n.2186-8003G>A
ENST00000455470.6:c.2431+3958G>A ENSP00000406565.2:n.2431+3958G>A
ENST00000382292.7:c.6389G>A ENSP00000371729.3:p.Arg2130Lys
ENST00000382298.7:c.6389G>A ENSP00000371735.3:p.Arg2130Lys
ENST00000402364.1:c.4139G>A ENSP00000385844.1:p.Arg1380Lys
ENST00000423156.1:c.1058-8003G>A ENSP00000390925.1:n.1058-8003G>A
ENST00000455470.5:c.2129+3958G>A
NM_001278055.1:c.5948G>A NP_001264984.1:p.Arg1983Lys
NM_014363.5:c.6389G>A NP_055178.3:p.Arg2130Lys
XM_005266338.1:c.6416G>A XP_005266395.1:p.Arg2139Lys
XM_011535038.1:c.6440G>A XP_011533340.1:p.Arg2147Lys
XM_011535039.1:c.6407G>A XP_011533341.1:p.Arg2136Lys
XM_005266338.2:c.6416G>A XP_005266395.1:p.Arg2139Lys
XM_011535039.2:c.6407G>A XP_011533341.1:p.Arg2136Lys
XM_017020539.1:c.6380G>A XP_016876028.1:p.Arg2127Lys
XM_024449337.1:c.6416G>A XP_024305105.1:p.Arg2139Lys
NM_014363.6:c.6389G>A MANE Select NP_055178.3:p.Arg2130Lys
NM_001278055.2:c.5948G>A NP_001264984.1:p.Arg1983Lys