Canonical Allele Identifier: CA2078621153

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324415G= , CM000675.2:g.23324415G=	GRCh38
NC_000013.10:g.23898554G= , CM000675.1:g.23898554G=	GRCh37
NC_000013.9:g.22796554G=	NCBI36
NG_008759.1:g.148495G= , LRG_207:g.148495G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-12300C= (SACS)	ENSP00000508399.1:n.2186-12300C=
ENST00000683210.1:c.2185+29370C= (SACS)	ENSP00000506739.1:n.2185+29370C=
ENST00000684325.1:c.2186-2741C= (SACS)	ENSP00000508121.1:n.2186-2741C=
ENST00000684497.1:c.2186-1771C= (SACS)	ENSP00000507057.1:n.2186-1771C=
ENST00000218867.4:c.750G= (SGCG) MANE Select	ENSP00000218867.3:p.Gly250=
ENST00000218867.3:c.750G= (SGCG)	ENSP00000218867.3:p.Gly250=
NM_000231.2:c.750G= , LRG_207t1:c.750G= (SGCG)	NP_000222.1:p.Gly250=
XM_005266505.2:c.750G= (SGCG)	XP_005266562.1:p.Gly250=
XM_006719861.2:c.804G= (SGCG)	XP_006719924.1:p.Gly268=
XM_006719861.3:c.804G= (SGCG)	XP_006719924.1:p.Gly268=
XM_024449397.1:c.750G= (SGCG)	XP_024305165.1:p.Gly250=
NM_000231.3:c.750G= (SGCG) MANE Select	NP_000222.2:p.Gly250=
NM_001378244.1:c.804G= (SGCG)	NP_001365173.1:p.Gly268=
NM_001378245.1:c.750G= (SGCG)	NP_001365174.1:p.Gly250=
NM_001378246.1:c.750G= (SGCG)	NP_001365175.1:p.Gly250=