Canonical Allele Identifier: CA2078643092

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340765T= , CM000675.2:g.23340765T=	GRCh38
NC_000013.10:g.23914904T= , CM000675.1:g.23914904T=	GRCh37
NC_000013.9:g.22812904T=	NCBI36
NG_012342.1:g.97938A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13020A=	ENSP00000508399.1:n.2185+13020A=
ENST00000682944.1:c.3138A=	ENSP00000507173.1:p.Leu1046=
ENST00000683210.1:c.2185+13020A=	ENSP00000506739.1:n.2185+13020A=
ENST00000683270.1:c.3102A=	ENSP00000507624.1:p.Leu1034=
ENST00000683367.1:c.2177-11281A=	ENSP00000507780.1:n.2177-11281A=
ENST00000683489.1:c.2291+820A=	ENSP00000508403.1:n.2291+820A=
ENST00000683680.1:c.2318+820A=	ENSP00000507223.1:n.2318+820A=
ENST00000684163.1:c.2203+6046A=	ENSP00000508262.1:n.2203+6046A=
ENST00000684196.1:n.4543-11281A=
ENST00000684325.1:c.2185+13020A=	ENSP00000508121.1:n.2185+13020A=
ENST00000684385.1:c.2220+6046A=	ENSP00000507855.1:n.2220+6046A=
ENST00000684497.1:c.2185+13020A=	ENSP00000507057.1:n.2185+13020A=
ENST00000382292.9:c.3111A= MANE Select	ENSP00000371729.3:p.Leu1037=
ENST00000423156.2:c.2186-11281A=	ENSP00000390925.2:n.2186-11281A=
ENST00000455470.6:c.2431+680A=	ENSP00000406565.2:n.2431+680A=
ENST00000382292.7:c.3111A=	ENSP00000371729.3:p.Leu1037=
ENST00000382298.7:c.3111A=	ENSP00000371735.3:p.Leu1037=
ENST00000402364.1:c.861A=	ENSP00000385844.1:p.Leu287=
ENST00000423156.1:c.1058-11281A=	ENSP00000390925.1:n.1058-11281A=
ENST00000455470.5:c.2129+680A=
NM_001278055.1:c.2670A=	NP_001264984.1:p.Leu890=
NM_014363.5:c.3111A=	NP_055178.3:p.Leu1037=
XM_005266338.1:c.3138A=	XP_005266395.1:p.Leu1046=
XM_011535038.1:c.3162A=	XP_011533340.1:p.Leu1054=
XM_011535039.1:c.3129A=	XP_011533341.1:p.Leu1043=
XM_005266338.2:c.3138A=	XP_005266395.1:p.Leu1046=
XM_011535039.2:c.3129A=	XP_011533341.1:p.Leu1043=
XM_017020539.1:c.3102A=	XP_016876028.1:p.Leu1034=
XM_024449337.1:c.3138A=	XP_024305105.1:p.Leu1046=
NM_014363.6:c.3111A= MANE Select	NP_055178.3:p.Leu1037=
NM_001278055.2:c.2670A=	NP_001264984.1:p.Leu890=