Canonical Allele Identifier: CA6912006

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355703T>C , CM000675.2:g.23355703T>C	GRCh38
NC_000013.10:g.23929842T>C , CM000675.1:g.23929842T>C	GRCh37
NC_000013.9:g.22827842T>C	NCBI36
NG_012342.1:g.83000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.909A>G	ENSP00000508399.1:p.Ala303=
ENST00000682944.1:c.909A>G	ENSP00000507173.1:p.Ala303=
ENST00000683154.1:n.1047A>G
ENST00000683210.1:c.909A>G	ENSP00000506739.1:p.Ala303=
ENST00000683270.1:c.900A>G	ENSP00000507624.1:p.Ala300=
ENST00000683367.1:c.900A>G	ENSP00000507780.1:p.Ala300=
ENST00000683489.1:c.909A>G	ENSP00000508403.1:p.Ala303=
ENST00000683680.1:c.909A>G	ENSP00000507223.1:p.Ala303=
ENST00000684163.1:c.900A>G	ENSP00000508262.1:p.Ala300=
ENST00000684196.1:n.3266A>G
ENST00000684325.1:c.909A>G	ENSP00000508121.1:p.Ala303=
ENST00000684385.1:c.909A>G	ENSP00000507855.1:p.Ala303=
ENST00000684497.1:c.909A>G	ENSP00000507057.1:p.Ala303=
ENST00000382292.9:c.909A>G MANE Select	ENSP00000371729.3:p.Ala303=
ENST00000423156.2:c.909A>G	ENSP00000390925.2:p.Ala303=
ENST00000455470.6:c.909A>G	ENSP00000406565.2:p.Ala303=
ENST00000382292.7:c.909A>G	ENSP00000371729.3:p.Ala303=
ENST00000382298.7:c.909A>G	ENSP00000371735.3:p.Ala303=
ENST00000402364.1:c.-1342A>G	ENSP00000385844.1:n.-1342A>G
ENST00000455470.5:c.607A>G
NM_001278055.1:c.468A>G	NP_001264984.1:p.Ala156=
NM_014363.5:c.909A>G	NP_055178.3:p.Ala303=
XM_005266338.1:c.909A>G	XP_005266395.1:p.Ala303=
XM_011535038.1:c.933A>G	XP_011533340.1:p.Ala311=
XM_011535039.1:c.900A>G	XP_011533341.1:p.Ala300=
XM_005266338.2:c.909A>G	XP_005266395.1:p.Ala303=
XM_011535039.2:c.900A>G	XP_011533341.1:p.Ala300=
XM_017020539.1:c.900A>G	XP_016876028.1:p.Ala300=
XM_024449337.1:c.909A>G	XP_024305105.1:p.Ala303=
NM_014363.6:c.909A>G MANE Select	NP_055178.3:p.Ala303=
NM_001278055.2:c.468A>G	NP_001264984.1:p.Ala156=