Canonical Allele Identifier: CA2078632457
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332994G= , CM000675.2:g.23332994G= GRCh38
NC_000013.10:g.23907133G= , CM000675.1:g.23907133G= GRCh37
NC_000013.9:g.22805133G= NCBI36
NG_012342.1:g.105709C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20791C= ENSP00000508399.1:n.2185+20791C=
ENST00000682944.1:c.10909C= ENSP00000507173.1:p.Leu3637=
ENST00000683210.1:c.2185+20791C= ENSP00000506739.1:n.2185+20791C=
ENST00000683270.1:c.6446-3510C= ENSP00000507624.1:n.6446-3510C=
ENST00000683367.1:c.2177-3510C= ENSP00000507780.1:n.2177-3510C=
ENST00000683489.1:c.2292-3042C= ENSP00000508403.1:n.2292-3042C=
ENST00000683680.1:c.2319-3042C= ENSP00000507223.1:n.2319-3042C=
ENST00000684163.1:c.2204-3510C= ENSP00000508262.1:n.2204-3510C=
ENST00000684196.1:n.4543-3510C=
ENST00000684325.1:c.2186-11320C= ENSP00000508121.1:n.2186-11320C=
ENST00000684385.1:c.2221-3510C= ENSP00000507855.1:n.2221-3510C=
ENST00000684497.1:c.2186-10350C= ENSP00000507057.1:n.2186-10350C=
ENST00000382292.9:c.10882C= MANE Select ENSP00000371729.3:p.Leu3628=
ENST00000423156.2:c.2186-3510C= ENSP00000390925.2:n.2186-3510C=
ENST00000455470.6:c.2432-3510C= ENSP00000406565.2:n.2432-3510C=
ENST00000382292.7:c.10882C= ENSP00000371729.3:p.Leu3628=
ENST00000382298.7:c.10882C= ENSP00000371735.3:p.Leu3628=
ENST00000402364.1:c.8632C= ENSP00000385844.1:p.Leu2878=
ENST00000423156.1:c.1058-3510C= ENSP00000390925.1:n.1058-3510C=
ENST00000455470.5:c.2130-3510C=
NM_001278055.1:c.10441C= NP_001264984.1:p.Leu3481=
NM_014363.5:c.10882C= NP_055178.3:p.Leu3628=
XM_005266338.1:c.10909C= XP_005266395.1:p.Leu3637=
XM_011535038.1:c.10933C= XP_011533340.1:p.Leu3645=
XM_011535039.1:c.10900C= XP_011533341.1:p.Leu3634=
XM_005266338.2:c.10909C= XP_005266395.1:p.Leu3637=
XM_011535039.2:c.10900C= XP_011533341.1:p.Leu3634=
XM_017020539.1:c.10873C= XP_016876028.1:p.Leu3625=
XM_024449337.1:c.10909C= XP_024305105.1:p.Leu3637=
NM_014363.6:c.10882C= MANE Select NP_055178.3:p.Leu3628=
NM_001278055.2:c.10441C= NP_001264984.1:p.Leu3481=