Canonical Allele Identifier: CA2078643115

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340772G= , CM000675.2:g.23340772G=	GRCh38
NC_000013.10:g.23914911G= , CM000675.1:g.23914911G=	GRCh37
NC_000013.9:g.22812911G=	NCBI36
NG_012342.1:g.97931C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13013C=	ENSP00000508399.1:n.2185+13013C=
ENST00000682944.1:c.3131C=	ENSP00000507173.1:p.Thr1044=
ENST00000683210.1:c.2185+13013C=	ENSP00000506739.1:n.2185+13013C=
ENST00000683270.1:c.3095C=	ENSP00000507624.1:p.Thr1032=
ENST00000683367.1:c.2177-11288C=	ENSP00000507780.1:n.2177-11288C=
ENST00000683489.1:c.2291+813C=	ENSP00000508403.1:n.2291+813C=
ENST00000683680.1:c.2318+813C=	ENSP00000507223.1:n.2318+813C=
ENST00000684163.1:c.2203+6039C=	ENSP00000508262.1:n.2203+6039C=
ENST00000684196.1:n.4543-11288C=
ENST00000684325.1:c.2185+13013C=	ENSP00000508121.1:n.2185+13013C=
ENST00000684385.1:c.2220+6039C=	ENSP00000507855.1:n.2220+6039C=
ENST00000684497.1:c.2185+13013C=	ENSP00000507057.1:n.2185+13013C=
ENST00000382292.9:c.3104C= MANE Select	ENSP00000371729.3:p.Thr1035=
ENST00000423156.2:c.2186-11288C=	ENSP00000390925.2:n.2186-11288C=
ENST00000455470.6:c.2431+673C=	ENSP00000406565.2:n.2431+673C=
ENST00000382292.7:c.3104C=	ENSP00000371729.3:p.Thr1035=
ENST00000382298.7:c.3104C=	ENSP00000371735.3:p.Thr1035=
ENST00000402364.1:c.854C=	ENSP00000385844.1:p.Thr285=
ENST00000423156.1:c.1058-11288C=	ENSP00000390925.1:n.1058-11288C=
ENST00000455470.5:c.2129+673C=
NM_001278055.1:c.2663C=	NP_001264984.1:p.Thr888=
NM_014363.5:c.3104C=	NP_055178.3:p.Thr1035=
XM_005266338.1:c.3131C=	XP_005266395.1:p.Thr1044=
XM_011535038.1:c.3155C=	XP_011533340.1:p.Thr1052=
XM_011535039.1:c.3122C=	XP_011533341.1:p.Thr1041=
XM_005266338.2:c.3131C=	XP_005266395.1:p.Thr1044=
XM_011535039.2:c.3122C=	XP_011533341.1:p.Thr1041=
XM_017020539.1:c.3095C=	XP_016876028.1:p.Thr1032=
XM_024449337.1:c.3131C=	XP_024305105.1:p.Thr1044=
NM_014363.6:c.3104C= MANE Select	NP_055178.3:p.Thr1035=
NM_001278055.2:c.2663C=	NP_001264984.1:p.Thr888=