Canonical Allele Identifier: CA387504270

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23295420G>T , CM000675.2:g.23295420G>T	GRCh38
NC_000013.10:g.23869559G>T , CM000675.1:g.23869559G>T	GRCh37
NC_000013.9:g.22767559G>T	NCBI36
NG_008759.1:g.119500G>T , LRG_207:g.119500G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000231.3:c.511G>T (SGCG) MANE Select	NP_000222.2:p.Glu171Ter
ENST00000218867.4:c.511G>T (SGCG) MANE Select	ENSP00000218867.3:p.Glu171Ter
NM_000231.2:c.511G>T , LRG_207t1:c.511G>T (SGCG)	NP_000222.1:p.Glu171Ter
NM_001378244.1:c.565G>T (SGCG)	NP_001365173.1:p.Glu189Ter
NM_001378245.1:c.511G>T (SGCG)	NP_001365174.1:p.Glu171Ter
NM_001378246.1:c.511G>T (SGCG)	NP_001365175.1:p.Glu171Ter
ENST00000218867.3:c.511G>T (SGCG)	ENSP00000218867.3:p.Glu171Ter
ENST00000683210.1:c.2186-6177C>A (SACS)	ENSP00000506739.1:n.2186-6177C>A
XM_005266505.2:c.511G>T (SGCG)	XP_005266562.1:p.Glu171Ter
XM_006719861.2:c.565G>T (SGCG)	XP_006719924.1:p.Glu189Ter
XM_006719861.3:c.565G>T (SGCG)	XP_006719924.1:p.Glu189Ter
XM_024449397.1:c.511G>T (SGCG)	XP_024305165.1:p.Glu171Ter