Canonical Allele Identifier: CA2078632242
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332916A= , CM000675.2:g.23332916A= GRCh38
NC_000013.10:g.23907055A= , CM000675.1:g.23907055A= GRCh37
NC_000013.9:g.22805055A= NCBI36
NG_012342.1:g.105787T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-20801T= ENSP00000508399.1:n.2186-20801T=
ENST00000682944.1:c.10987T= ENSP00000507173.1:p.Leu3663=
ENST00000683210.1:c.2185+20869T= ENSP00000506739.1:n.2185+20869T=
ENST00000683270.1:c.6446-3432T= ENSP00000507624.1:n.6446-3432T=
ENST00000683367.1:c.2177-3432T= ENSP00000507780.1:n.2177-3432T=
ENST00000683489.1:c.2292-2964T= ENSP00000508403.1:n.2292-2964T=
ENST00000683680.1:c.2319-2964T= ENSP00000507223.1:n.2319-2964T=
ENST00000684163.1:c.2204-3432T= ENSP00000508262.1:n.2204-3432T=
ENST00000684196.1:n.4543-3432T=
ENST00000684325.1:c.2186-11242T= ENSP00000508121.1:n.2186-11242T=
ENST00000684385.1:c.2221-3432T= ENSP00000507855.1:n.2221-3432T=
ENST00000684497.1:c.2186-10272T= ENSP00000507057.1:n.2186-10272T=
ENST00000382292.9:c.10960T= MANE Select ENSP00000371729.3:p.Leu3654=
ENST00000423156.2:c.2186-3432T= ENSP00000390925.2:n.2186-3432T=
ENST00000455470.6:c.2432-3432T= ENSP00000406565.2:n.2432-3432T=
ENST00000382292.7:c.10960T= ENSP00000371729.3:p.Leu3654=
ENST00000382298.7:c.10960T= ENSP00000371735.3:p.Leu3654=
ENST00000402364.1:c.8710T= ENSP00000385844.1:p.Leu2904=
ENST00000423156.1:c.1058-3432T= ENSP00000390925.1:n.1058-3432T=
ENST00000455470.5:c.2130-3432T=
NM_001278055.1:c.10519T= NP_001264984.1:p.Leu3507=
NM_014363.5:c.10960T= NP_055178.3:p.Leu3654=
XM_005266338.1:c.10987T= XP_005266395.1:p.Leu3663=
XM_011535038.1:c.11011T= XP_011533340.1:p.Leu3671=
XM_011535039.1:c.10978T= XP_011533341.1:p.Leu3660=
XM_005266338.2:c.10987T= XP_005266395.1:p.Leu3663=
XM_011535039.2:c.10978T= XP_011533341.1:p.Leu3660=
XM_017020539.1:c.10951T= XP_016876028.1:p.Leu3651=
XM_024449337.1:c.10987T= XP_024305105.1:p.Leu3663=
NM_014363.6:c.10960T= MANE Select NP_055178.3:p.Leu3654=
NM_001278055.2:c.10519T= NP_001264984.1:p.Leu3507=