Canonical Allele Identifier: CA658832944

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.[23324465G>C;23324466T>C] , CM000675.2:g.[23324465G>C;23324466T>C]	GRCh38
NC_000013.10:g.[23898604G>C;23898605T>C] , CM000675.1:g.[23898604G>C;23898605T>C]	GRCh37
NC_000013.9:g.[22796604G>C;22796605T>C]	NCBI36
NG_008759.1:g.[148545G>C;148546T>C] , LRG_207:g.[148545G>C;148546T>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.[2186-12351A>G;2186-12350C>G] (SACS)	ENSP00000508399.1:n.[2186-12351A>G;2186-12350C>G]
ENST00000683210.1:c.[2185+29319A>G;2185+29320C>G] (SACS)	ENSP00000506739.1:n.[2185+29319A>G;2185+29320C>G]
ENST00000684325.1:c.[2186-2792A>G;2186-2791C>G] (SACS)	ENSP00000508121.1:n.[2186-2792A>G;2186-2791C>G]
ENST00000684497.1:c.[2186-1822A>G;2186-1821C>G] (SACS)	ENSP00000507057.1:n.[2186-1822A>G;2186-1821C>G]
ENST00000218867.4:c.[800G>C;801T>C] (SGCG) MANE Select	ENSP00000218867.3:p.Cys267Ser
ENST00000218867.3:c.[800G>C;801T>C] (SGCG)	ENSP00000218867.3:p.Cys267Ser
NM_000231.2:c.[800G>C;801T>C] , LRG_207t1:c.[800G>C;801T>C] (SGCG)	NP_000222.1:p.[Cys267Ser;Cys267=]
XM_005266505.2:c.[800G>C;801T>C] (SGCG)	XP_005266562.1:p.[Cys267Ser;Cys267=]
XM_006719861.2:c.[854G>C;855T>C] (SGCG)	XP_006719924.1:p.Cys285Ser
XM_006719861.3:c.[854G>C;855T>C] (SGCG)	XP_006719924.1:p.Cys285Ser
XM_024449397.1:c.[800G>C;801T>C] (SGCG)	XP_024305165.1:p.Cys267Ser
NM_000231.3:c.[800G>C;801T>C] (SGCG) MANE Select	NP_000222.2:p.Cys267Ser
NM_001378244.1:c.[854G>C;855T>C] (SGCG)	NP_001365173.1:p.Cys285Ser
NM_001378245.1:c.[800G>C;801T>C] (SGCG)	NP_001365174.1:p.Cys267Ser
NM_001378246.1:c.[800G>C;801T>C] (SGCG)	NP_001365175.1:p.[Cys267Ser;Cys267=]