Canonical Allele Identifier: CA2078633509
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333738C= , CM000675.2:g.23333738C= GRCh38
NC_000013.10:g.23907877C= , CM000675.1:g.23907877C= GRCh37
NC_000013.9:g.22805877C= NCBI36
NG_012342.1:g.104965G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20047G= ENSP00000508399.1:n.2185+20047G=
ENST00000682944.1:c.10165G= ENSP00000507173.1:p.Val3389=
ENST00000683210.1:c.2185+20047G= ENSP00000506739.1:n.2185+20047G=
ENST00000683270.1:c.6445+3684G= ENSP00000507624.1:n.6445+3684G=
ENST00000683367.1:c.2177-4254G= ENSP00000507780.1:n.2177-4254G=
ENST00000683489.1:c.2292-3786G= ENSP00000508403.1:n.2292-3786G=
ENST00000683680.1:c.2319-3786G= ENSP00000507223.1:n.2319-3786G=
ENST00000684163.1:c.2204-4254G= ENSP00000508262.1:n.2204-4254G=
ENST00000684196.1:n.4543-4254G=
ENST00000684325.1:c.2186-12064G= ENSP00000508121.1:n.2186-12064G=
ENST00000684385.1:c.2221-4254G= ENSP00000507855.1:n.2221-4254G=
ENST00000684497.1:c.2186-11094G= ENSP00000507057.1:n.2186-11094G=
ENST00000382292.9:c.10138G= MANE Select ENSP00000371729.3:p.Val3380=
ENST00000423156.2:c.2186-4254G= ENSP00000390925.2:n.2186-4254G=
ENST00000455470.6:c.2432-4254G= ENSP00000406565.2:n.2432-4254G=
ENST00000382292.7:c.10138G= ENSP00000371729.3:p.Val3380=
ENST00000382298.7:c.10138G= ENSP00000371735.3:p.Val3380=
ENST00000402364.1:c.7888G= ENSP00000385844.1:p.Val2630=
ENST00000423156.1:c.1058-4254G= ENSP00000390925.1:n.1058-4254G=
ENST00000455470.5:c.2130-4254G=
NM_001278055.1:c.9697G= NP_001264984.1:p.Val3233=
NM_014363.5:c.10138G= NP_055178.3:p.Val3380=
XM_005266338.1:c.10165G= XP_005266395.1:p.Val3389=
XM_011535038.1:c.10189G= XP_011533340.1:p.Val3397=
XM_011535039.1:c.10156G= XP_011533341.1:p.Val3386=
XM_005266338.2:c.10165G= XP_005266395.1:p.Val3389=
XM_011535039.2:c.10156G= XP_011533341.1:p.Val3386=
XM_017020539.1:c.10129G= XP_016876028.1:p.Val3377=
XM_024449337.1:c.10165G= XP_024305105.1:p.Val3389=
NM_014363.6:c.10138G= MANE Select NP_055178.3:p.Val3380=
NM_001278055.2:c.9697G= NP_001264984.1:p.Val3233=