Canonical Allele Identifier: CA2078658501

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355305G= , CM000675.2:g.23355305G=	GRCh38
NC_000013.10:g.23929444G= , CM000675.1:g.23929444G=	GRCh37
NC_000013.9:g.22827444G=	NCBI36
NG_012342.1:g.83398C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1307C=	ENSP00000508399.1:p.Ala436=
ENST00000682944.1:c.1307C=	ENSP00000507173.1:p.Ala436=
ENST00000683154.1:n.1445C=
ENST00000683210.1:c.1307C=	ENSP00000506739.1:p.Ala436=
ENST00000683270.1:c.1298C=	ENSP00000507624.1:p.Ala433=
ENST00000683367.1:c.1298C=	ENSP00000507780.1:p.Ala433=
ENST00000683489.1:c.1307C=	ENSP00000508403.1:p.Ala436=
ENST00000683680.1:c.1307C=	ENSP00000507223.1:p.Ala436=
ENST00000684163.1:c.1298C=	ENSP00000508262.1:p.Ala433=
ENST00000684196.1:n.3664C=
ENST00000684325.1:c.1307C=	ENSP00000508121.1:p.Ala436=
ENST00000684385.1:c.1307C=	ENSP00000507855.1:p.Ala436=
ENST00000684497.1:c.1307C=	ENSP00000507057.1:p.Ala436=
ENST00000382292.9:c.1307C= MANE Select	ENSP00000371729.3:p.Ala436=
ENST00000423156.2:c.1307C=	ENSP00000390925.2:p.Ala436=
ENST00000455470.6:c.1307C=	ENSP00000406565.2:p.Ala436=
ENST00000382292.7:c.1307C=	ENSP00000371729.3:p.Ala436=
ENST00000382298.7:c.1307C=	ENSP00000371735.3:p.Ala436=
ENST00000402364.1:c.-944C=	ENSP00000385844.1:n.-944C=
ENST00000423156.1:c.179C=	ENSP00000390925.1:p.Ala60=
ENST00000455470.5:c.1005C=
NM_001278055.1:c.866C=	NP_001264984.1:p.Ala289=
NM_014363.5:c.1307C=	NP_055178.3:p.Ala436=
XM_005266338.1:c.1307C=	XP_005266395.1:p.Ala436=
XM_011535038.1:c.1331C=	XP_011533340.1:p.Ala444=
XM_011535039.1:c.1298C=	XP_011533341.1:p.Ala433=
XM_005266338.2:c.1307C=	XP_005266395.1:p.Ala436=
XM_011535039.2:c.1298C=	XP_011533341.1:p.Ala433=
XM_017020539.1:c.1298C=	XP_016876028.1:p.Ala433=
XM_024449337.1:c.1307C=	XP_024305105.1:p.Ala436=
NM_014363.6:c.1307C= MANE Select	NP_055178.3:p.Ala436=
NM_001278055.2:c.866C=	NP_001264984.1:p.Ala289=