Canonical Allele Identifier: CA2078624983
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336203G= , CM000675.2:g.23336203G= GRCh38
NC_000013.10:g.23910342G= , CM000675.1:g.23910342G= GRCh37
NC_000013.9:g.22808342G= NCBI36
NG_012342.1:g.102500C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17582C= ENSP00000508399.1:n.2185+17582C=
ENST00000682944.1:c.7700C= ENSP00000507173.1:p.Ala2567=
ENST00000683210.1:c.2185+17582C= ENSP00000506739.1:n.2185+17582C=
ENST00000683270.1:c.6445+1219C= ENSP00000507624.1:n.6445+1219C=
ENST00000683367.1:c.2177-6719C= ENSP00000507780.1:n.2177-6719C=
ENST00000683489.1:c.2291+5382C= ENSP00000508403.1:n.2291+5382C=
ENST00000683680.1:c.2318+5382C= ENSP00000507223.1:n.2318+5382C=
ENST00000684163.1:c.2204-6719C= ENSP00000508262.1:n.2204-6719C=
ENST00000684196.1:n.4543-6719C=
ENST00000684325.1:c.2186-14529C= ENSP00000508121.1:n.2186-14529C=
ENST00000684385.1:c.2221-6719C= ENSP00000507855.1:n.2221-6719C=
ENST00000684497.1:c.2186-13559C= ENSP00000507057.1:n.2186-13559C=
ENST00000382292.9:c.7673C= MANE Select ENSP00000371729.3:p.Ala2558=
ENST00000423156.2:c.2186-6719C= ENSP00000390925.2:n.2186-6719C=
ENST00000455470.6:c.2431+5242C= ENSP00000406565.2:n.2431+5242C=
ENST00000382292.7:c.7673C= ENSP00000371729.3:p.Ala2558=
ENST00000382298.7:c.7673C= ENSP00000371735.3:p.Ala2558=
ENST00000402364.1:c.5423C= ENSP00000385844.1:p.Ala1808=
ENST00000423156.1:c.1058-6719C= ENSP00000390925.1:n.1058-6719C=
ENST00000455470.5:c.2129+5242C=
NM_001278055.1:c.7232C= NP_001264984.1:p.Ala2411=
NM_014363.5:c.7673C= NP_055178.3:p.Ala2558=
XM_005266338.1:c.7700C= XP_005266395.1:p.Ala2567=
XM_011535038.1:c.7724C= XP_011533340.1:p.Ala2575=
XM_011535039.1:c.7691C= XP_011533341.1:p.Ala2564=
XM_005266338.2:c.7700C= XP_005266395.1:p.Ala2567=
XM_011535039.2:c.7691C= XP_011533341.1:p.Ala2564=
XM_017020539.1:c.7664C= XP_016876028.1:p.Ala2555=
XM_024449337.1:c.7700C= XP_024305105.1:p.Ala2567=
NM_014363.6:c.7673C= MANE Select NP_055178.3:p.Ala2558=
NM_001278055.2:c.7232C= NP_001264984.1:p.Ala2411=