Canonical Allele Identifier: CA6909866

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 2684375
• ClinVar RCV Id: RCV003482871
• dbSNP Id: rs749232488
• ExAC: 13:23898682 C / T
• gnomAD v2: 13-23898682-C-T
• gnomAD v3: 13-23324543-C-T
• gnomAD v4: 13-23324543-C-T
• MyVariant Identifiers: chr13:g.23898682C>T (hg19) ; chr13:g.23324543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324543C>T , CM000675.2:g.23324543C>T	GRCh38
NC_000013.10:g.23898682C>T , CM000675.1:g.23898682C>T	GRCh37
NC_000013.9:g.22796682C>T	NCBI36
NG_008759.1:g.148623C>T , LRG_207:g.148623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12428G>A (SACS)	ENSP00000508399.1:n.2186-12428G>A
ENST00000683210.1:c.2185+29242G>A (SACS)	ENSP00000506739.1:n.2185+29242G>A
ENST00000684325.1:c.2186-2869G>A (SACS)	ENSP00000508121.1:n.2186-2869G>A
ENST00000684497.1:c.2186-1899G>A (SACS)	ENSP00000507057.1:n.2186-1899G>A
ENST00000218867.4:c.*2C>T (SGCG) MANE Select	ENSP00000218867.3:n.*2C>T
ENST00000218867.3:c.*2C>T (SGCG)	ENSP00000218867.3:n.*2C>T
NM_000231.2:c.*2C>T , LRG_207t1:c.*2C>T (SGCG)	NP_000222.1:n.*2C>T
XM_005266505.2:c.*2C>T (SGCG)	XP_005266562.1:n.*2C>T
XM_006719861.2:c.*2C>T (SGCG)	XP_006719924.1:n.*2C>T
XM_006719861.3:c.*2C>T (SGCG)	XP_006719924.1:n.*2C>T
XM_024449397.1:c.*2C>T (SGCG)	XP_024305165.1:n.*2C>T
NM_000231.3:c.*2C>T (SGCG) MANE Select	NP_000222.2:n.*2C>T
NM_001378244.1:c.*2C>T (SGCG)	NP_001365173.1:n.*2C>T
NM_001378245.1:c.*2C>T (SGCG)	NP_001365174.1:n.*2C>T
NM_001378246.1:c.*2C>T (SGCG)	NP_001365175.1:n.*2C>T