Canonical Allele Identifier: CA387504159

Gene: SACS SGCG

Linked Data

• gnomAD v4: 13-23324537-T-A
• MyVariant Identifiers: chr13:g.23898676T>A (hg19) ; chr13:g.23324537T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324537T>A , CM000675.2:g.23324537T>A	GRCh38
NC_000013.10:g.23898676T>A , CM000675.1:g.23898676T>A	GRCh37
NC_000013.9:g.22796676T>A	NCBI36
NG_008759.1:g.148617T>A , LRG_207:g.148617T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12422A>T (SACS)	ENSP00000508399.1:n.2186-12422A>T
ENST00000683210.1:c.2185+29248A>T (SACS)	ENSP00000506739.1:n.2185+29248A>T
ENST00000684325.1:c.2186-2863A>T (SACS)	ENSP00000508121.1:n.2186-2863A>T
ENST00000684497.1:c.2186-1893A>T (SACS)	ENSP00000507057.1:n.2186-1893A>T
ENST00000218867.4:c.872T>A (SGCG) MANE Select	ENSP00000218867.3:p.Leu291His
ENST00000218867.3:c.872T>A (SGCG)	ENSP00000218867.3:p.Leu291His
NM_000231.2:c.872T>A , LRG_207t1:c.872T>A (SGCG)	NP_000222.1:p.Leu291His
XM_005266505.2:c.872T>A (SGCG)	XP_005266562.1:p.Leu291His
XM_006719861.2:c.926T>A (SGCG)	XP_006719924.1:p.Leu309His
XM_006719861.3:c.926T>A (SGCG)	XP_006719924.1:p.Leu309His
XM_024449397.1:c.872T>A (SGCG)	XP_024305165.1:p.Leu291His
NM_000231.3:c.872T>A (SGCG) MANE Select	NP_000222.2:p.Leu291His
NM_001378244.1:c.926T>A (SGCG)	NP_001365173.1:p.Leu309His
NM_001378245.1:c.872T>A (SGCG)	NP_001365174.1:p.Leu291His
NM_001378246.1:c.872T>A (SGCG)	NP_001365175.1:p.Leu291His