Canonical Allele Identifier: CA2078642554
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340478A= , CM000675.2:g.23340478A= GRCh38
NC_000013.10:g.23914617A= , CM000675.1:g.23914617A= GRCh37
NC_000013.9:g.22812617A= NCBI36
NG_012342.1:g.98225T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+13307T= ENSP00000508399.1:n.2185+13307T=
ENST00000682944.1:c.3425T= ENSP00000507173.1:p.Leu1142=
ENST00000683210.1:c.2185+13307T= ENSP00000506739.1:n.2185+13307T=
ENST00000683270.1:c.3389T= ENSP00000507624.1:p.Leu1130=
ENST00000683367.1:c.2177-10994T= ENSP00000507780.1:n.2177-10994T=
ENST00000683489.1:c.2291+1107T= ENSP00000508403.1:n.2291+1107T=
ENST00000683680.1:c.2318+1107T= ENSP00000507223.1:n.2318+1107T=
ENST00000684163.1:c.2203+6333T= ENSP00000508262.1:n.2203+6333T=
ENST00000684196.1:n.4543-10994T=
ENST00000684325.1:c.2185+13307T= ENSP00000508121.1:n.2185+13307T=
ENST00000684385.1:c.2220+6333T= ENSP00000507855.1:n.2220+6333T=
ENST00000684497.1:c.2185+13307T= ENSP00000507057.1:n.2185+13307T=
ENST00000382292.9:c.3398T= MANE Select ENSP00000371729.3:p.Leu1133=
ENST00000423156.2:c.2186-10994T= ENSP00000390925.2:n.2186-10994T=
ENST00000455470.6:c.2431+967T= ENSP00000406565.2:n.2431+967T=
ENST00000382292.7:c.3398T= ENSP00000371729.3:p.Leu1133=
ENST00000382298.7:c.3398T= ENSP00000371735.3:p.Leu1133=
ENST00000402364.1:c.1148T= ENSP00000385844.1:p.Leu383=
ENST00000423156.1:c.1058-10994T= ENSP00000390925.1:n.1058-10994T=
ENST00000455470.5:c.2129+967T=
NM_001278055.1:c.2957T= NP_001264984.1:p.Leu986=
NM_014363.5:c.3398T= NP_055178.3:p.Leu1133=
XM_005266338.1:c.3425T= XP_005266395.1:p.Leu1142=
XM_011535038.1:c.3449T= XP_011533340.1:p.Leu1150=
XM_011535039.1:c.3416T= XP_011533341.1:p.Leu1139=
XM_005266338.2:c.3425T= XP_005266395.1:p.Leu1142=
XM_011535039.2:c.3416T= XP_011533341.1:p.Leu1139=
XM_017020539.1:c.3389T= XP_016876028.1:p.Leu1130=
XM_024449337.1:c.3425T= XP_024305105.1:p.Leu1142=
NM_014363.6:c.3398T= MANE Select NP_055178.3:p.Leu1133=
NM_001278055.2:c.2957T= NP_001264984.1:p.Leu986=