Canonical Allele Identifier: CA2078624817
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336113A= , CM000675.2:g.23336113A= GRCh38
NC_000013.10:g.23910252A= , CM000675.1:g.23910252A= GRCh37
NC_000013.9:g.22808252A= NCBI36
NG_012342.1:g.102590T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17672T= ENSP00000508399.1:n.2185+17672T=
ENST00000682944.1:c.7790T= ENSP00000507173.1:p.Leu2597=
ENST00000683210.1:c.2185+17672T= ENSP00000506739.1:n.2185+17672T=
ENST00000683270.1:c.6445+1309T= ENSP00000507624.1:n.6445+1309T=
ENST00000683367.1:c.2177-6629T= ENSP00000507780.1:n.2177-6629T=
ENST00000683489.1:c.2291+5472T= ENSP00000508403.1:n.2291+5472T=
ENST00000683680.1:c.2318+5472T= ENSP00000507223.1:n.2318+5472T=
ENST00000684163.1:c.2204-6629T= ENSP00000508262.1:n.2204-6629T=
ENST00000684196.1:n.4543-6629T=
ENST00000684325.1:c.2186-14439T= ENSP00000508121.1:n.2186-14439T=
ENST00000684385.1:c.2221-6629T= ENSP00000507855.1:n.2221-6629T=
ENST00000684497.1:c.2186-13469T= ENSP00000507057.1:n.2186-13469T=
ENST00000382292.9:c.7763T= MANE Select ENSP00000371729.3:p.Leu2588=
ENST00000423156.2:c.2186-6629T= ENSP00000390925.2:n.2186-6629T=
ENST00000455470.6:c.2431+5332T= ENSP00000406565.2:n.2431+5332T=
ENST00000382292.7:c.7763T= ENSP00000371729.3:p.Leu2588=
ENST00000382298.7:c.7763T= ENSP00000371735.3:p.Leu2588=
ENST00000402364.1:c.5513T= ENSP00000385844.1:p.Leu1838=
ENST00000423156.1:c.1058-6629T= ENSP00000390925.1:n.1058-6629T=
ENST00000455470.5:c.2129+5332T=
NM_001278055.1:c.7322T= NP_001264984.1:p.Leu2441=
NM_014363.5:c.7763T= NP_055178.3:p.Leu2588=
XM_005266338.1:c.7790T= XP_005266395.1:p.Leu2597=
XM_011535038.1:c.7814T= XP_011533340.1:p.Leu2605=
XM_011535039.1:c.7781T= XP_011533341.1:p.Leu2594=
XM_005266338.2:c.7790T= XP_005266395.1:p.Leu2597=
XM_011535039.2:c.7781T= XP_011533341.1:p.Leu2594=
XM_017020539.1:c.7754T= XP_016876028.1:p.Leu2585=
XM_024449337.1:c.7790T= XP_024305105.1:p.Leu2597=
NM_014363.6:c.7763T= MANE Select NP_055178.3:p.Leu2588=
NM_001278055.2:c.7322T= NP_001264984.1:p.Leu2441=