Canonical Allele Identifier: CA2078656648

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375126C= , CM000675.2:g.23375126C=	GRCh38
NC_000013.10:g.23949265C= , CM000675.1:g.23949265C=	GRCh37
NC_000013.9:g.22847265C=	NCBI36
NG_012342.1:g.63577G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.737G=
ENST00000682547.1:c.201G=	ENSP00000507735.1:p.Arg67=
ENST00000682775.1:c.164G=	ENSP00000508399.1:p.Gly55=
ENST00000682944.1:c.164G=	ENSP00000507173.1:p.Gly55=
ENST00000683154.1:n.302G=
ENST00000683210.1:c.164G=	ENSP00000506739.1:p.Gly55=
ENST00000683270.1:c.155G=	ENSP00000507624.1:p.Gly52=
ENST00000683367.1:c.155G=	ENSP00000507780.1:p.Gly52=
ENST00000683489.1:c.164G=	ENSP00000508403.1:p.Gly55=
ENST00000683680.1:c.164G=	ENSP00000507223.1:p.Gly55=
ENST00000684053.1:n.281G=
ENST00000684163.1:c.155G=	ENSP00000508262.1:p.Gly52=
ENST00000684325.1:c.164G=	ENSP00000508121.1:p.Gly55=
ENST00000684385.1:c.164G=	ENSP00000507855.1:p.Gly55=
ENST00000684497.1:c.164G=	ENSP00000507057.1:p.Gly55=
ENST00000382292.9:c.164G= MANE Select	ENSP00000371729.3:p.Gly55=
ENST00000423156.2:c.164G=	ENSP00000390925.2:p.Gly55=
ENST00000455470.6:c.164G=	ENSP00000406565.2:p.Gly55=
ENST00000382292.7:c.164G=	ENSP00000371729.3:p.Gly55=
ENST00000382298.7:c.164G=	ENSP00000371735.3:p.Gly55=
ENST00000402364.1:c.-1999G=	ENSP00000385844.1:n.-1999G=
NM_001278055.1:c.-190G=	NP_001264984.1:n.-190G=
NM_014363.5:c.164G=	NP_055178.3:p.Gly55=
XM_005266338.1:c.164G=	XP_005266395.1:p.Gly55=
XM_011535038.1:c.188G=	XP_011533340.1:p.Gly63=
XM_011535039.1:c.155G=	XP_011533341.1:p.Gly52=
XM_005266338.2:c.164G=	XP_005266395.1:p.Gly55=
XM_011535039.2:c.155G=	XP_011533341.1:p.Gly52=
XM_017020539.1:c.155G=	XP_016876028.1:p.Gly52=
XM_024449337.1:c.164G=	XP_024305105.1:p.Gly55=
NM_014363.6:c.164G= MANE Select	NP_055178.3:p.Gly55=
NM_001278055.2:c.-190G=	NP_001264984.1:n.-190G=