Canonical Allele Identifier: CA2078658149

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355033A= , CM000675.2:g.23355033A=	GRCh38
NC_000013.10:g.23929172A= , CM000675.1:g.23929172A=	GRCh37
NC_000013.9:g.22827172A=	NCBI36
NG_012342.1:g.83670T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1579T=	ENSP00000508399.1:p.Ser527=
ENST00000682944.1:c.1579T=	ENSP00000507173.1:p.Ser527=
ENST00000683154.1:n.1717T=
ENST00000683210.1:c.1579T=	ENSP00000506739.1:p.Ser527=
ENST00000683270.1:c.1570T=	ENSP00000507624.1:p.Ser524=
ENST00000683367.1:c.1570T=	ENSP00000507780.1:p.Ser524=
ENST00000683489.1:c.1579T=	ENSP00000508403.1:p.Ser527=
ENST00000683680.1:c.1579T=	ENSP00000507223.1:p.Ser527=
ENST00000684163.1:c.1570T=	ENSP00000508262.1:p.Ser524=
ENST00000684196.1:n.3936T=
ENST00000684325.1:c.1579T=	ENSP00000508121.1:p.Ser527=
ENST00000684385.1:c.1579T=	ENSP00000507855.1:p.Ser527=
ENST00000684497.1:c.1579T=	ENSP00000507057.1:p.Ser527=
ENST00000382292.9:c.1579T= MANE Select	ENSP00000371729.3:p.Ser527=
ENST00000423156.2:c.1579T=	ENSP00000390925.2:p.Ser527=
ENST00000455470.6:c.1579T=	ENSP00000406565.2:p.Ser527=
ENST00000382292.7:c.1579T=	ENSP00000371729.3:p.Ser527=
ENST00000382298.7:c.1579T=	ENSP00000371735.3:p.Ser527=
ENST00000402364.1:c.-672T=	ENSP00000385844.1:n.-672T=
ENST00000423156.1:c.451T=	ENSP00000390925.1:p.Ser151=
ENST00000455470.5:c.1277T=
NM_001278055.1:c.1138T=	NP_001264984.1:p.Ser380=
NM_014363.5:c.1579T=	NP_055178.3:p.Ser527=
XM_005266338.1:c.1579T=	XP_005266395.1:p.Ser527=
XM_011535038.1:c.1603T=	XP_011533340.1:p.Ser535=
XM_011535039.1:c.1570T=	XP_011533341.1:p.Ser524=
XM_005266338.2:c.1579T=	XP_005266395.1:p.Ser527=
XM_011535039.2:c.1570T=	XP_011533341.1:p.Ser524=
XM_017020539.1:c.1570T=	XP_016876028.1:p.Ser524=
XM_024449337.1:c.1579T=	XP_024305105.1:p.Ser527=
NM_014363.6:c.1579T= MANE Select	NP_055178.3:p.Ser527=
NM_001278055.2:c.1138T=	NP_001264984.1:p.Ser380=