Canonical Allele Identifier: CA2078624807
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336108C= , CM000675.2:g.23336108C= GRCh38
NC_000013.10:g.23910247C= , CM000675.1:g.23910247C= GRCh37
NC_000013.9:g.22808247C= NCBI36
NG_012342.1:g.102595G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17677G= ENSP00000508399.1:n.2185+17677G=
ENST00000682944.1:c.7795G= ENSP00000507173.1:p.Val2599=
ENST00000683210.1:c.2185+17677G= ENSP00000506739.1:n.2185+17677G=
ENST00000683270.1:c.6445+1314G= ENSP00000507624.1:n.6445+1314G=
ENST00000683367.1:c.2177-6624G= ENSP00000507780.1:n.2177-6624G=
ENST00000683489.1:c.2291+5477G= ENSP00000508403.1:n.2291+5477G=
ENST00000683680.1:c.2318+5477G= ENSP00000507223.1:n.2318+5477G=
ENST00000684163.1:c.2204-6624G= ENSP00000508262.1:n.2204-6624G=
ENST00000684196.1:n.4543-6624G=
ENST00000684325.1:c.2186-14434G= ENSP00000508121.1:n.2186-14434G=
ENST00000684385.1:c.2221-6624G= ENSP00000507855.1:n.2221-6624G=
ENST00000684497.1:c.2186-13464G= ENSP00000507057.1:n.2186-13464G=
ENST00000382292.9:c.7768G= MANE Select ENSP00000371729.3:p.Val2590=
ENST00000423156.2:c.2186-6624G= ENSP00000390925.2:n.2186-6624G=
ENST00000455470.6:c.2431+5337G= ENSP00000406565.2:n.2431+5337G=
ENST00000382292.7:c.7768G= ENSP00000371729.3:p.Val2590=
ENST00000382298.7:c.7768G= ENSP00000371735.3:p.Val2590=
ENST00000402364.1:c.5518G= ENSP00000385844.1:p.Val1840=
ENST00000423156.1:c.1058-6624G= ENSP00000390925.1:n.1058-6624G=
ENST00000455470.5:c.2129+5337G=
NM_001278055.1:c.7327G= NP_001264984.1:p.Val2443=
NM_014363.5:c.7768G= NP_055178.3:p.Val2590=
XM_005266338.1:c.7795G= XP_005266395.1:p.Val2599=
XM_011535038.1:c.7819G= XP_011533340.1:p.Val2607=
XM_011535039.1:c.7786G= XP_011533341.1:p.Val2596=
XM_005266338.2:c.7795G= XP_005266395.1:p.Val2599=
XM_011535039.2:c.7786G= XP_011533341.1:p.Val2596=
XM_017020539.1:c.7759G= XP_016876028.1:p.Val2587=
XM_024449337.1:c.7795G= XP_024305105.1:p.Val2599=
NM_014363.6:c.7768G= MANE Select NP_055178.3:p.Val2590=
NM_001278055.2:c.7327G= NP_001264984.1:p.Val2443=