Canonical Allele Identifier: CA2078658061

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354965T= , CM000675.2:g.23354965T=	GRCh38
NC_000013.10:g.23929104T= , CM000675.1:g.23929104T=	GRCh37
NC_000013.9:g.22827104T=	NCBI36
NG_012342.1:g.83738A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1647A=	ENSP00000508399.1:p.Leu549=
ENST00000682944.1:c.1647A=	ENSP00000507173.1:p.Leu549=
ENST00000683154.1:n.1785A=
ENST00000683210.1:c.1647A=	ENSP00000506739.1:p.Leu549=
ENST00000683270.1:c.1638A=	ENSP00000507624.1:p.Leu546=
ENST00000683367.1:c.1638A=	ENSP00000507780.1:p.Leu546=
ENST00000683489.1:c.1647A=	ENSP00000508403.1:p.Leu549=
ENST00000683680.1:c.1647A=	ENSP00000507223.1:p.Leu549=
ENST00000684163.1:c.1638A=	ENSP00000508262.1:p.Leu546=
ENST00000684196.1:n.4004A=
ENST00000684325.1:c.1647A=	ENSP00000508121.1:p.Leu549=
ENST00000684385.1:c.1647A=	ENSP00000507855.1:p.Leu549=
ENST00000684497.1:c.1647A=	ENSP00000507057.1:p.Leu549=
ENST00000382292.9:c.1647A= MANE Select	ENSP00000371729.3:p.Leu549=
ENST00000423156.2:c.1647A=	ENSP00000390925.2:p.Leu549=
ENST00000455470.6:c.1647A=	ENSP00000406565.2:p.Leu549=
ENST00000382292.7:c.1647A=	ENSP00000371729.3:p.Leu549=
ENST00000382298.7:c.1647A=	ENSP00000371735.3:p.Leu549=
ENST00000402364.1:c.-604A=	ENSP00000385844.1:n.-604A=
ENST00000423156.1:c.519A=	ENSP00000390925.1:p.Leu173=
ENST00000455470.5:c.1345A=
NM_001278055.1:c.1206A=	NP_001264984.1:p.Leu402=
NM_014363.5:c.1647A=	NP_055178.3:p.Leu549=
XM_005266338.1:c.1647A=	XP_005266395.1:p.Leu549=
XM_011535038.1:c.1671A=	XP_011533340.1:p.Leu557=
XM_011535039.1:c.1638A=	XP_011533341.1:p.Leu546=
XM_005266338.2:c.1647A=	XP_005266395.1:p.Leu549=
XM_011535039.2:c.1638A=	XP_011533341.1:p.Leu546=
XM_017020539.1:c.1638A=	XP_016876028.1:p.Leu546=
XM_024449337.1:c.1647A=	XP_024305105.1:p.Leu549=
NM_014363.6:c.1647A= MANE Select	NP_055178.3:p.Leu549=
NM_001278055.2:c.1206A=	NP_001264984.1:p.Leu402=