Canonical Allele Identifier: CA220515

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 2009
• ClinVar RCV Id: RCV000002086 ; RCV000078408
• dbSNP Id: rs104894423
• ExAC: 13:23898591 G / A
• gnomAD v2: 13-23898591-G-A
• gnomAD v3: 13-23324452-G-A
• gnomAD v4: 13-23324452-G-A
• COSMIC: COSM1365850 ; COSM6360537
• MyVariant Identifiers: chr13:g.23898591G>A (hg19) ; chr13:g.23324452G>A (hg38)
• PubMed: PMID:16832103 ; PMID:18285821 ; PMID:22095924 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324452G>A , CM000675.2:g.23324452G>A	GRCh38
NC_000013.10:g.23898591G>A , CM000675.1:g.23898591G>A	GRCh37
NC_000013.9:g.22796591G>A	NCBI36
NG_008759.1:g.148532G>A , LRG_207:g.148532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12337C>T (SACS)	ENSP00000508399.1:n.2186-12337C>T
ENST00000683210.1:c.2185+29333C>T (SACS)	ENSP00000506739.1:n.2185+29333C>T
ENST00000684325.1:c.2186-2778C>T (SACS)	ENSP00000508121.1:n.2186-2778C>T
ENST00000684497.1:c.2186-1808C>T (SACS)	ENSP00000507057.1:n.2186-1808C>T
ENST00000218867.4:c.787G>A (SGCG) MANE Select	ENSP00000218867.3:p.Glu263Lys
ENST00000218867.3:c.787G>A (SGCG)	ENSP00000218867.3:p.Glu263Lys
NM_000231.2:c.787G>A , LRG_207t1:c.787G>A (SGCG)	NP_000222.1:p.Glu263Lys
XM_005266505.2:c.787G>A (SGCG)	XP_005266562.1:p.Glu263Lys
XM_006719861.2:c.841G>A (SGCG)	XP_006719924.1:p.Glu281Lys
XM_006719861.3:c.841G>A (SGCG)	XP_006719924.1:p.Glu281Lys
XM_024449397.1:c.787G>A (SGCG)	XP_024305165.1:p.Glu263Lys
NM_000231.3:c.787G>A (SGCG) MANE Select	NP_000222.2:p.Glu263Lys
NM_001378244.1:c.841G>A (SGCG)	NP_001365173.1:p.Glu281Lys
NM_001378245.1:c.787G>A (SGCG)	NP_001365174.1:p.Glu263Lys
NM_001378246.1:c.787G>A (SGCG)	NP_001365175.1:p.Glu263Lys