Canonical Allele Identifier: CA10643101

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 311482
• ClinVar RCV Id: RCV000345323 ; RCV000407197 ; RCV003137914
• dbSNP Id: rs188804783
• gnomAD v2: 13-23898733-C-A
• gnomAD v3: 13-23324594-C-A
• gnomAD v4: 13-23324594-C-A
• MyVariant Identifiers: chr13:g.23898733C>A (hg19) ; chr13:g.23324594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324594C>A , CM000675.2:g.23324594C>A	GRCh38
NC_000013.10:g.23898733C>A , CM000675.1:g.23898733C>A	GRCh37
NC_000013.9:g.22796733C>A	NCBI36
NG_008759.1:g.148674C>A , LRG_207:g.148674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12479G>T (SACS)	ENSP00000508399.1:n.2186-12479G>T
ENST00000683210.1:c.2185+29191G>T (SACS)	ENSP00000506739.1:n.2185+29191G>T
ENST00000684325.1:c.2186-2920G>T (SACS)	ENSP00000508121.1:n.2186-2920G>T
ENST00000684497.1:c.2186-1950G>T (SACS)	ENSP00000507057.1:n.2186-1950G>T
ENST00000218867.4:c.*53C>A (SGCG) MANE Select	ENSP00000218867.3:n.*53C>A
ENST00000218867.3:c.*53C>A (SGCG)	ENSP00000218867.3:n.*53C>A
NM_000231.2:c.*53C>A , LRG_207t1:c.*53C>A (SGCG)	NP_000222.1:n.*53C>A
XM_005266505.2:c.*53C>A (SGCG)	XP_005266562.1:n.*53C>A
XM_006719861.2:c.*53C>A (SGCG)	XP_006719924.1:n.*53C>A
XM_006719861.3:c.*53C>A (SGCG)	XP_006719924.1:n.*53C>A
XM_024449397.1:c.*53C>A (SGCG)	XP_024305165.1:n.*53C>A
NM_000231.3:c.*53C>A (SGCG) MANE Select	NP_000222.2:n.*53C>A
NM_001378244.1:c.*53C>A (SGCG)	NP_001365173.1:n.*53C>A
NM_001378245.1:c.*53C>A (SGCG)	NP_001365174.1:n.*53C>A
NM_001378246.1:c.*53C>A (SGCG)	NP_001365175.1:n.*53C>A