Canonical Allele Identifier: CA2078658703

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355451T= , CM000675.2:g.23355451T=	GRCh38
NC_000013.10:g.23929590T= , CM000675.1:g.23929590T=	GRCh37
NC_000013.9:g.22827590T=	NCBI36
NG_012342.1:g.83252A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1161A=	ENSP00000508399.1:p.Ala387=
ENST00000682944.1:c.1161A=	ENSP00000507173.1:p.Ala387=
ENST00000683154.1:n.1299A=
ENST00000683210.1:c.1161A=	ENSP00000506739.1:p.Ala387=
ENST00000683270.1:c.1152A=	ENSP00000507624.1:p.Ala384=
ENST00000683367.1:c.1152A=	ENSP00000507780.1:p.Ala384=
ENST00000683489.1:c.1161A=	ENSP00000508403.1:p.Ala387=
ENST00000683680.1:c.1161A=	ENSP00000507223.1:p.Ala387=
ENST00000684163.1:c.1152A=	ENSP00000508262.1:p.Ala384=
ENST00000684196.1:n.3518A=
ENST00000684325.1:c.1161A=	ENSP00000508121.1:p.Ala387=
ENST00000684385.1:c.1161A=	ENSP00000507855.1:p.Ala387=
ENST00000684497.1:c.1161A=	ENSP00000507057.1:p.Ala387=
ENST00000382292.9:c.1161A= MANE Select	ENSP00000371729.3:p.Ala387=
ENST00000423156.2:c.1161A=	ENSP00000390925.2:p.Ala387=
ENST00000455470.6:c.1161A=	ENSP00000406565.2:p.Ala387=
ENST00000382292.7:c.1161A=	ENSP00000371729.3:p.Ala387=
ENST00000382298.7:c.1161A=	ENSP00000371735.3:p.Ala387=
ENST00000402364.1:c.-1090A=	ENSP00000385844.1:n.-1090A=
ENST00000423156.1:c.33A=	ENSP00000390925.1:p.Ala11=
ENST00000455470.5:c.859A=
NM_001278055.1:c.720A=	NP_001264984.1:p.Ala240=
NM_014363.5:c.1161A=	NP_055178.3:p.Ala387=
XM_005266338.1:c.1161A=	XP_005266395.1:p.Ala387=
XM_011535038.1:c.1185A=	XP_011533340.1:p.Ala395=
XM_011535039.1:c.1152A=	XP_011533341.1:p.Ala384=
XM_005266338.2:c.1161A=	XP_005266395.1:p.Ala387=
XM_011535039.2:c.1152A=	XP_011533341.1:p.Ala384=
XM_017020539.1:c.1152A=	XP_016876028.1:p.Ala384=
XM_024449337.1:c.1161A=	XP_024305105.1:p.Ala387=
NM_014363.6:c.1161A= MANE Select	NP_055178.3:p.Ala387=
NM_001278055.2:c.720A=	NP_001264984.1:p.Ala240=