Canonical Allele Identifier: CA2078629148
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338331C= , CM000675.2:g.23338331C= GRCh38
NC_000013.10:g.23912470C= , CM000675.1:g.23912470C= GRCh37
NC_000013.9:g.22810470C= NCBI36
NG_012342.1:g.100372G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15454G= ENSP00000508399.1:n.2185+15454G=
ENST00000682944.1:c.5572G= ENSP00000507173.1:p.Val1858=
ENST00000683210.1:c.2185+15454G= ENSP00000506739.1:n.2185+15454G=
ENST00000683270.1:c.5536G= ENSP00000507624.1:p.Val1846=
ENST00000683367.1:c.2177-8847G= ENSP00000507780.1:n.2177-8847G=
ENST00000683489.1:c.2291+3254G= ENSP00000508403.1:n.2291+3254G=
ENST00000683680.1:c.2318+3254G= ENSP00000507223.1:n.2318+3254G=
ENST00000684163.1:c.2203+8480G= ENSP00000508262.1:n.2203+8480G=
ENST00000684196.1:n.4543-8847G=
ENST00000684325.1:c.2185+15454G= ENSP00000508121.1:n.2185+15454G=
ENST00000684385.1:c.2220+8480G= ENSP00000507855.1:n.2220+8480G=
ENST00000684497.1:c.2185+15454G= ENSP00000507057.1:n.2185+15454G=
ENST00000382292.9:c.5545G= MANE Select ENSP00000371729.3:p.Val1849=
ENST00000423156.2:c.2186-8847G= ENSP00000390925.2:n.2186-8847G=
ENST00000455470.6:c.2431+3114G= ENSP00000406565.2:n.2431+3114G=
ENST00000382292.7:c.5545G= ENSP00000371729.3:p.Val1849=
ENST00000382298.7:c.5545G= ENSP00000371735.3:p.Val1849=
ENST00000402364.1:c.3295G= ENSP00000385844.1:p.Val1099=
ENST00000423156.1:c.1058-8847G= ENSP00000390925.1:n.1058-8847G=
ENST00000455470.5:c.2129+3114G=
NM_001278055.1:c.5104G= NP_001264984.1:p.Val1702=
NM_014363.5:c.5545G= NP_055178.3:p.Val1849=
XM_005266338.1:c.5572G= XP_005266395.1:p.Val1858=
XM_011535038.1:c.5596G= XP_011533340.1:p.Val1866=
XM_011535039.1:c.5563G= XP_011533341.1:p.Val1855=
XM_005266338.2:c.5572G= XP_005266395.1:p.Val1858=
XM_011535039.2:c.5563G= XP_011533341.1:p.Val1855=
XM_017020539.1:c.5536G= XP_016876028.1:p.Val1846=
XM_024449337.1:c.5572G= XP_024305105.1:p.Val1858=
NM_014363.6:c.5545G= MANE Select NP_055178.3:p.Val1849=
NM_001278055.2:c.5104G= NP_001264984.1:p.Val1702=