Canonical Allele Identifier: CA2078624699
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336057G= , CM000675.2:g.23336057G= GRCh38
NC_000013.10:g.23910196G= , CM000675.1:g.23910196G= GRCh37
NC_000013.9:g.22808196G= NCBI36
NG_012342.1:g.102646C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17728C= ENSP00000508399.1:n.2185+17728C=
ENST00000682944.1:c.7846C= ENSP00000507173.1:p.Leu2616=
ENST00000683210.1:c.2185+17728C= ENSP00000506739.1:n.2185+17728C=
ENST00000683270.1:c.6445+1365C= ENSP00000507624.1:n.6445+1365C=
ENST00000683367.1:c.2177-6573C= ENSP00000507780.1:n.2177-6573C=
ENST00000683489.1:c.2291+5528C= ENSP00000508403.1:n.2291+5528C=
ENST00000683680.1:c.2318+5528C= ENSP00000507223.1:n.2318+5528C=
ENST00000684163.1:c.2204-6573C= ENSP00000508262.1:n.2204-6573C=
ENST00000684196.1:n.4543-6573C=
ENST00000684325.1:c.2186-14383C= ENSP00000508121.1:n.2186-14383C=
ENST00000684385.1:c.2221-6573C= ENSP00000507855.1:n.2221-6573C=
ENST00000684497.1:c.2186-13413C= ENSP00000507057.1:n.2186-13413C=
ENST00000382292.9:c.7819C= MANE Select ENSP00000371729.3:p.Leu2607=
ENST00000423156.2:c.2186-6573C= ENSP00000390925.2:n.2186-6573C=
ENST00000455470.6:c.2431+5388C= ENSP00000406565.2:n.2431+5388C=
ENST00000382292.7:c.7819C= ENSP00000371729.3:p.Leu2607=
ENST00000382298.7:c.7819C= ENSP00000371735.3:p.Leu2607=
ENST00000402364.1:c.5569C= ENSP00000385844.1:p.Leu1857=
ENST00000423156.1:c.1058-6573C= ENSP00000390925.1:n.1058-6573C=
ENST00000455470.5:c.2129+5388C=
NM_001278055.1:c.7378C= NP_001264984.1:p.Leu2460=
NM_014363.5:c.7819C= NP_055178.3:p.Leu2607=
XM_005266338.1:c.7846C= XP_005266395.1:p.Leu2616=
XM_011535038.1:c.7870C= XP_011533340.1:p.Leu2624=
XM_011535039.1:c.7837C= XP_011533341.1:p.Leu2613=
XM_005266338.2:c.7846C= XP_005266395.1:p.Leu2616=
XM_011535039.2:c.7837C= XP_011533341.1:p.Leu2613=
XM_017020539.1:c.7810C= XP_016876028.1:p.Leu2604=
XM_024449337.1:c.7846C= XP_024305105.1:p.Leu2616=
NM_014363.6:c.7819C= MANE Select NP_055178.3:p.Leu2607=
NM_001278055.2:c.7378C= NP_001264984.1:p.Leu2460=