Canonical Allele Identifier: CA2078643824
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341095G= , CM000675.2:g.23341095G= GRCh38
NC_000013.10:g.23915234G= , CM000675.1:g.23915234G= GRCh37
NC_000013.9:g.22813234G= NCBI36
NG_012342.1:g.97608C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+12690C= ENSP00000508399.1:n.2185+12690C=
ENST00000682944.1:c.2808C= ENSP00000507173.1:p.Phe936=
ENST00000683210.1:c.2185+12690C= ENSP00000506739.1:n.2185+12690C=
ENST00000683270.1:c.2772C= ENSP00000507624.1:p.Phe924=
ENST00000683367.1:c.2177-11611C= ENSP00000507780.1:n.2177-11611C=
ENST00000683489.1:c.2291+490C= ENSP00000508403.1:n.2291+490C=
ENST00000683680.1:c.2318+490C= ENSP00000507223.1:n.2318+490C=
ENST00000684163.1:c.2203+5716C= ENSP00000508262.1:n.2203+5716C=
ENST00000684196.1:n.4543-11611C=
ENST00000684325.1:c.2185+12690C= ENSP00000508121.1:n.2185+12690C=
ENST00000684385.1:c.2220+5716C= ENSP00000507855.1:n.2220+5716C=
ENST00000684497.1:c.2185+12690C= ENSP00000507057.1:n.2185+12690C=
ENST00000382292.9:c.2781C= MANE Select ENSP00000371729.3:p.Phe927=
ENST00000423156.2:c.2186-11611C= ENSP00000390925.2:n.2186-11611C=
ENST00000455470.6:c.2431+350C= ENSP00000406565.2:n.2431+350C=
ENST00000382292.7:c.2781C= ENSP00000371729.3:p.Phe927=
ENST00000382298.7:c.2781C= ENSP00000371735.3:p.Phe927=
ENST00000402364.1:c.531C= ENSP00000385844.1:p.Phe177=
ENST00000423156.1:c.1058-11611C= ENSP00000390925.1:n.1058-11611C=
ENST00000455470.5:c.2129+350C=
NM_001278055.1:c.2340C= NP_001264984.1:p.Phe780=
NM_014363.5:c.2781C= NP_055178.3:p.Phe927=
XM_005266338.1:c.2808C= XP_005266395.1:p.Phe936=
XM_011535038.1:c.2832C= XP_011533340.1:p.Phe944=
XM_011535039.1:c.2799C= XP_011533341.1:p.Phe933=
XM_005266338.2:c.2808C= XP_005266395.1:p.Phe936=
XM_011535039.2:c.2799C= XP_011533341.1:p.Phe933=
XM_017020539.1:c.2772C= XP_016876028.1:p.Phe924=
XM_024449337.1:c.2808C= XP_024305105.1:p.Phe936=
NM_014363.6:c.2781C= MANE Select NP_055178.3:p.Phe927=
NM_001278055.2:c.2340C= NP_001264984.1:p.Phe780=