Canonical Allele Identifier: CA2078657937

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354808C= , CM000675.2:g.23354808C=	GRCh38
NC_000013.10:g.23928947C= , CM000675.1:g.23928947C=	GRCh37
NC_000013.9:g.22826947C=	NCBI36
NG_012342.1:g.83895G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1804G=	ENSP00000508399.1:p.Ala602=
ENST00000682944.1:c.1804G=	ENSP00000507173.1:p.Ala602=
ENST00000683154.1:n.1942G=
ENST00000683210.1:c.1804G=	ENSP00000506739.1:p.Ala602=
ENST00000683270.1:c.1795G=	ENSP00000507624.1:p.Ala599=
ENST00000683367.1:c.1795G=	ENSP00000507780.1:p.Ala599=
ENST00000683489.1:c.1804G=	ENSP00000508403.1:p.Ala602=
ENST00000683680.1:c.1804G=	ENSP00000507223.1:p.Ala602=
ENST00000684163.1:c.1795G=	ENSP00000508262.1:p.Ala599=
ENST00000684196.1:n.4161G=
ENST00000684325.1:c.1804G=	ENSP00000508121.1:p.Ala602=
ENST00000684385.1:c.1804G=	ENSP00000507855.1:p.Ala602=
ENST00000684497.1:c.1804G=	ENSP00000507057.1:p.Ala602=
ENST00000382292.9:c.1804G= MANE Select	ENSP00000371729.3:p.Ala602=
ENST00000423156.2:c.1804G=	ENSP00000390925.2:p.Ala602=
ENST00000455470.6:c.1804G=	ENSP00000406565.2:p.Ala602=
ENST00000382292.7:c.1804G=	ENSP00000371729.3:p.Ala602=
ENST00000382298.7:c.1804G=	ENSP00000371735.3:p.Ala602=
ENST00000402364.1:c.-447G=	ENSP00000385844.1:n.-447G=
ENST00000423156.1:c.676G=	ENSP00000390925.1:p.Ala226=
ENST00000455470.5:c.1502G=
ENST00000476776.1:n.83G=
NM_001278055.1:c.1363G=	NP_001264984.1:p.Ala455=
NM_014363.5:c.1804G=	NP_055178.3:p.Ala602=
XM_005266338.1:c.1804G=	XP_005266395.1:p.Ala602=
XM_011535038.1:c.1828G=	XP_011533340.1:p.Ala610=
XM_011535039.1:c.1795G=	XP_011533341.1:p.Ala599=
XM_005266338.2:c.1804G=	XP_005266395.1:p.Ala602=
XM_011535039.2:c.1795G=	XP_011533341.1:p.Ala599=
XM_017020539.1:c.1795G=	XP_016876028.1:p.Ala599=
XM_024449337.1:c.1804G=	XP_024305105.1:p.Ala602=
NM_014363.6:c.1804G= MANE Select	NP_055178.3:p.Ala602=
NM_001278055.2:c.1363G=	NP_001264984.1:p.Ala455=