Canonical Allele Identifier: CA2078627821
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330363G= , CM000675.2:g.23330363G= GRCh38
NC_000013.10:g.23904502G= , CM000675.1:g.23904502G= GRCh37
NC_000013.9:g.22802502G= NCBI36
NG_012342.1:g.108340C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18248C= ENSP00000508399.1:n.2186-18248C=
ENST00000682944.1:c.13540C= ENSP00000507173.1:p.Leu4514=
ENST00000683210.1:c.2185+23422C= ENSP00000506739.1:n.2185+23422C=
ENST00000683270.1:c.6446-879C= ENSP00000507624.1:n.6446-879C=
ENST00000683367.1:c.2177-879C= ENSP00000507780.1:n.2177-879C=
ENST00000683489.1:c.2292-411C= ENSP00000508403.1:n.2292-411C=
ENST00000683680.1:c.2319-411C= ENSP00000507223.1:n.2319-411C=
ENST00000684163.1:c.2204-879C= ENSP00000508262.1:n.2204-879C=
ENST00000684196.1:n.4543-879C=
ENST00000684325.1:c.2186-8689C= ENSP00000508121.1:n.2186-8689C=
ENST00000684385.1:c.2221-879C= ENSP00000507855.1:n.2221-879C=
ENST00000684497.1:c.2186-7719C= ENSP00000507057.1:n.2186-7719C=
ENST00000382292.9:c.13513C= MANE Select ENSP00000371729.3:p.Leu4505=
ENST00000423156.2:c.2186-879C= ENSP00000390925.2:n.2186-879C=
ENST00000455470.6:c.2432-879C= ENSP00000406565.2:n.2432-879C=
ENST00000382292.7:c.13513C= ENSP00000371729.3:p.Leu4505=
ENST00000382298.7:c.13513C= ENSP00000371735.3:p.Leu4505=
ENST00000402364.1:c.11263C= ENSP00000385844.1:p.Leu3755=
ENST00000423156.1:c.1058-879C= ENSP00000390925.1:n.1058-879C=
ENST00000455470.5:c.2130-879C=
NM_001278055.1:c.13072C= NP_001264984.1:p.Leu4358=
NM_014363.5:c.13513C= NP_055178.3:p.Leu4505=
XM_005266338.1:c.13540C= XP_005266395.1:p.Leu4514=
XM_011535038.1:c.13564C= XP_011533340.1:p.Leu4522=
XM_011535039.1:c.13531C= XP_011533341.1:p.Leu4511=
XM_005266338.2:c.13540C= XP_005266395.1:p.Leu4514=
XM_011535039.2:c.13531C= XP_011533341.1:p.Leu4511=
XM_017020539.1:c.13504C= XP_016876028.1:p.Leu4502=
XM_024449337.1:c.13540C= XP_024305105.1:p.Leu4514=
NM_014363.6:c.13513C= MANE Select NP_055178.3:p.Leu4505=
NM_001278055.2:c.13072C= NP_001264984.1:p.Leu4358=