Canonical Allele Identifier: CA2078630965
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339187C= , CM000675.2:g.23339187C= GRCh38
NC_000013.10:g.23913326C= , CM000675.1:g.23913326C= GRCh37
NC_000013.9:g.22811326C= NCBI36
NG_012342.1:g.99516G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+14598G= ENSP00000508399.1:n.2185+14598G=
ENST00000682944.1:c.4716G= ENSP00000507173.1:p.Val1572=
ENST00000683210.1:c.2185+14598G= ENSP00000506739.1:n.2185+14598G=
ENST00000683270.1:c.4680G= ENSP00000507624.1:p.Val1560=
ENST00000683367.1:c.2177-9703G= ENSP00000507780.1:n.2177-9703G=
ENST00000683489.1:c.2291+2398G= ENSP00000508403.1:n.2291+2398G=
ENST00000683680.1:c.2318+2398G= ENSP00000507223.1:n.2318+2398G=
ENST00000684163.1:c.2203+7624G= ENSP00000508262.1:n.2203+7624G=
ENST00000684196.1:n.4543-9703G=
ENST00000684325.1:c.2185+14598G= ENSP00000508121.1:n.2185+14598G=
ENST00000684385.1:c.2220+7624G= ENSP00000507855.1:n.2220+7624G=
ENST00000684497.1:c.2185+14598G= ENSP00000507057.1:n.2185+14598G=
ENST00000382292.9:c.4689G= MANE Select ENSP00000371729.3:p.Val1563=
ENST00000423156.2:c.2186-9703G= ENSP00000390925.2:n.2186-9703G=
ENST00000455470.6:c.2431+2258G= ENSP00000406565.2:n.2431+2258G=
ENST00000382292.7:c.4689G= ENSP00000371729.3:p.Val1563=
ENST00000382298.7:c.4689G= ENSP00000371735.3:p.Val1563=
ENST00000402364.1:c.2439G= ENSP00000385844.1:p.Val813=
ENST00000423156.1:c.1058-9703G= ENSP00000390925.1:n.1058-9703G=
ENST00000455470.5:c.2129+2258G=
NM_001278055.1:c.4248G= NP_001264984.1:p.Val1416=
NM_014363.5:c.4689G= NP_055178.3:p.Val1563=
XM_005266338.1:c.4716G= XP_005266395.1:p.Val1572=
XM_011535038.1:c.4740G= XP_011533340.1:p.Val1580=
XM_011535039.1:c.4707G= XP_011533341.1:p.Val1569=
XM_005266338.2:c.4716G= XP_005266395.1:p.Val1572=
XM_011535039.2:c.4707G= XP_011533341.1:p.Val1569=
XM_017020539.1:c.4680G= XP_016876028.1:p.Val1560=
XM_024449337.1:c.4716G= XP_024305105.1:p.Val1572=
NM_014363.6:c.4689G= MANE Select NP_055178.3:p.Val1563=
NM_001278055.2:c.4248G= NP_001264984.1:p.Val1416=