Canonical Allele Identifier: CA2078633490
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333682C= , CM000675.2:g.23333682C= GRCh38
NC_000013.10:g.23907821C= , CM000675.1:g.23907821C= GRCh37
NC_000013.9:g.22805821C= NCBI36
NG_012342.1:g.105021G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20103G= ENSP00000508399.1:n.2185+20103G=
ENST00000682944.1:c.10221G= ENSP00000507173.1:p.Leu3407=
ENST00000683210.1:c.2185+20103G= ENSP00000506739.1:n.2185+20103G=
ENST00000683270.1:c.6445+3740G= ENSP00000507624.1:n.6445+3740G=
ENST00000683367.1:c.2177-4198G= ENSP00000507780.1:n.2177-4198G=
ENST00000683489.1:c.2292-3730G= ENSP00000508403.1:n.2292-3730G=
ENST00000683680.1:c.2319-3730G= ENSP00000507223.1:n.2319-3730G=
ENST00000684163.1:c.2204-4198G= ENSP00000508262.1:n.2204-4198G=
ENST00000684196.1:n.4543-4198G=
ENST00000684325.1:c.2186-12008G= ENSP00000508121.1:n.2186-12008G=
ENST00000684385.1:c.2221-4198G= ENSP00000507855.1:n.2221-4198G=
ENST00000684497.1:c.2186-11038G= ENSP00000507057.1:n.2186-11038G=
ENST00000382292.9:c.10194G= MANE Select ENSP00000371729.3:p.Leu3398=
ENST00000423156.2:c.2186-4198G= ENSP00000390925.2:n.2186-4198G=
ENST00000455470.6:c.2432-4198G= ENSP00000406565.2:n.2432-4198G=
ENST00000382292.7:c.10194G= ENSP00000371729.3:p.Leu3398=
ENST00000382298.7:c.10194G= ENSP00000371735.3:p.Leu3398=
ENST00000402364.1:c.7944G= ENSP00000385844.1:p.Leu2648=
ENST00000423156.1:c.1058-4198G= ENSP00000390925.1:n.1058-4198G=
ENST00000455470.5:c.2130-4198G=
NM_001278055.1:c.9753G= NP_001264984.1:p.Leu3251=
NM_014363.5:c.10194G= NP_055178.3:p.Leu3398=
XM_005266338.1:c.10221G= XP_005266395.1:p.Leu3407=
XM_011535038.1:c.10245G= XP_011533340.1:p.Leu3415=
XM_011535039.1:c.10212G= XP_011533341.1:p.Leu3404=
XM_005266338.2:c.10221G= XP_005266395.1:p.Leu3407=
XM_011535039.2:c.10212G= XP_011533341.1:p.Leu3404=
XM_017020539.1:c.10185G= XP_016876028.1:p.Leu3395=
XM_024449337.1:c.10221G= XP_024305105.1:p.Leu3407=
NM_014363.6:c.10194G= MANE Select NP_055178.3:p.Leu3398=
NM_001278055.2:c.9753G= NP_001264984.1:p.Leu3251=