Canonical Allele Identifier: CA2078643204
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340816T= , CM000675.2:g.23340816T= GRCh38
NC_000013.10:g.23914955T= , CM000675.1:g.23914955T= GRCh37
NC_000013.9:g.22812955T= NCBI36
NG_012342.1:g.97887A=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12969A= ENSP00000508399.1:n.2185+12969A=
ENST00000682944.1:c.3087A= ENSP00000507173.1:p.Leu1029=
ENST00000683210.1:c.2185+12969A= ENSP00000506739.1:n.2185+12969A=
ENST00000683270.1:c.3051A= ENSP00000507624.1:p.Leu1017=
ENST00000683367.1:c.2177-11332A= ENSP00000507780.1:n.2177-11332A=
ENST00000683489.1:c.2291+769A= ENSP00000508403.1:n.2291+769A=
ENST00000683680.1:c.2318+769A= ENSP00000507223.1:n.2318+769A=
ENST00000684163.1:c.2203+5995A= ENSP00000508262.1:n.2203+5995A=
ENST00000684196.1:n.4543-11332A=
ENST00000684325.1:c.2185+12969A= ENSP00000508121.1:n.2185+12969A=
ENST00000684385.1:c.2220+5995A= ENSP00000507855.1:n.2220+5995A=
ENST00000684497.1:c.2185+12969A= ENSP00000507057.1:n.2185+12969A=
ENST00000382292.9:c.3060A= MANE Select ENSP00000371729.3:p.Leu1020=
ENST00000423156.2:c.2186-11332A= ENSP00000390925.2:n.2186-11332A=
ENST00000455470.6:c.2431+629A= ENSP00000406565.2:n.2431+629A=
ENST00000382292.7:c.3060A= ENSP00000371729.3:p.Leu1020=
ENST00000382298.7:c.3060A= ENSP00000371735.3:p.Leu1020=
ENST00000402364.1:c.810A= ENSP00000385844.1:p.Leu270=
ENST00000423156.1:c.1058-11332A= ENSP00000390925.1:n.1058-11332A=
ENST00000455470.5:c.2129+629A=
NM_001278055.1:c.2619A= NP_001264984.1:p.Leu873=
NM_014363.5:c.3060A= NP_055178.3:p.Leu1020=
XM_005266338.1:c.3087A= XP_005266395.1:p.Leu1029=
XM_011535038.1:c.3111A= XP_011533340.1:p.Leu1037=
XM_011535039.1:c.3078A= XP_011533341.1:p.Leu1026=
XM_005266338.2:c.3087A= XP_005266395.1:p.Leu1029=
XM_011535039.2:c.3078A= XP_011533341.1:p.Leu1026=
XM_017020539.1:c.3051A= XP_016876028.1:p.Leu1017=
XM_024449337.1:c.3087A= XP_024305105.1:p.Leu1029=
NM_014363.6:c.3060A= MANE Select NP_055178.3:p.Leu1020=
NM_001278055.2:c.2619A= NP_001264984.1:p.Leu873=