Canonical Allele Identifier: CA2078642976

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340679C= , CM000675.2:g.23340679C=	GRCh38
NC_000013.10:g.23914818C= , CM000675.1:g.23914818C=	GRCh37
NC_000013.9:g.22812818C=	NCBI36
NG_012342.1:g.98024G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13106G=	ENSP00000508399.1:n.2185+13106G=
ENST00000682944.1:c.3224G=	ENSP00000507173.1:p.Cys1075=
ENST00000683210.1:c.2185+13106G=	ENSP00000506739.1:n.2185+13106G=
ENST00000683270.1:c.3188G=	ENSP00000507624.1:p.Cys1063=
ENST00000683367.1:c.2177-11195G=	ENSP00000507780.1:n.2177-11195G=
ENST00000683489.1:c.2291+906G=	ENSP00000508403.1:n.2291+906G=
ENST00000683680.1:c.2318+906G=	ENSP00000507223.1:n.2318+906G=
ENST00000684163.1:c.2203+6132G=	ENSP00000508262.1:n.2203+6132G=
ENST00000684196.1:n.4543-11195G=
ENST00000684325.1:c.2185+13106G=	ENSP00000508121.1:n.2185+13106G=
ENST00000684385.1:c.2220+6132G=	ENSP00000507855.1:n.2220+6132G=
ENST00000684497.1:c.2185+13106G=	ENSP00000507057.1:n.2185+13106G=
ENST00000382292.9:c.3197G= MANE Select	ENSP00000371729.3:p.Cys1066=
ENST00000423156.2:c.2186-11195G=	ENSP00000390925.2:n.2186-11195G=
ENST00000455470.6:c.2431+766G=	ENSP00000406565.2:n.2431+766G=
ENST00000382292.7:c.3197G=	ENSP00000371729.3:p.Cys1066=
ENST00000382298.7:c.3197G=	ENSP00000371735.3:p.Cys1066=
ENST00000402364.1:c.947G=	ENSP00000385844.1:p.Cys316=
ENST00000423156.1:c.1058-11195G=	ENSP00000390925.1:n.1058-11195G=
ENST00000455470.5:c.2129+766G=
NM_001278055.1:c.2756G=	NP_001264984.1:p.Cys919=
NM_014363.5:c.3197G=	NP_055178.3:p.Cys1066=
XM_005266338.1:c.3224G=	XP_005266395.1:p.Cys1075=
XM_011535038.1:c.3248G=	XP_011533340.1:p.Cys1083=
XM_011535039.1:c.3215G=	XP_011533341.1:p.Cys1072=
XM_005266338.2:c.3224G=	XP_005266395.1:p.Cys1075=
XM_011535039.2:c.3215G=	XP_011533341.1:p.Cys1072=
XM_017020539.1:c.3188G=	XP_016876028.1:p.Cys1063=
XM_024449337.1:c.3224G=	XP_024305105.1:p.Cys1075=
NM_014363.6:c.3197G= MANE Select	NP_055178.3:p.Cys1066=
NM_001278055.2:c.2756G=	NP_001264984.1:p.Cys919=