Canonical Allele Identifier: CA10639171

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 311483
• ClinVar RCV Id: RCV000310450 ; RCV000365130 ; RCV001553300
• dbSNP Id: rs3751372
• gnomAD v2: 13-23898816-T-A
• gnomAD v3: 13-23324677-T-A
• gnomAD v4: 13-23324677-T-A
• MyVariant Identifiers: chr13:g.23898816T>A (hg19) ; chr13:g.23324677T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324677T>A , CM000675.2:g.23324677T>A	GRCh38
NC_000013.10:g.23898816T>A , CM000675.1:g.23898816T>A	GRCh37
NC_000013.9:g.22796816T>A	NCBI36
NG_008759.1:g.148757T>A , LRG_207:g.148757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12562A>T (SACS)	ENSP00000508399.1:n.2186-12562A>T
ENST00000683210.1:c.2185+29108A>T (SACS)	ENSP00000506739.1:n.2185+29108A>T
ENST00000684325.1:c.2186-3003A>T (SACS)	ENSP00000508121.1:n.2186-3003A>T
ENST00000684497.1:c.2186-2033A>T (SACS)	ENSP00000507057.1:n.2186-2033A>T
ENST00000218867.4:c.*136T>A (SGCG) MANE Select	ENSP00000218867.3:n.*136T>A
ENST00000218867.3:c.*136T>A (SGCG)	ENSP00000218867.3:n.*136T>A
NM_000231.2:c.*136T>A , LRG_207t1:c.*136T>A (SGCG)	NP_000222.1:n.*136T>A
XM_005266505.2:c.*136T>A (SGCG)	XP_005266562.1:n.*136T>A
XM_006719861.2:c.*136T>A (SGCG)	XP_006719924.1:n.*136T>A
XM_006719861.3:c.*136T>A (SGCG)	XP_006719924.1:n.*136T>A
XM_024449397.1:c.*136T>A (SGCG)	XP_024305165.1:n.*136T>A
NM_000231.3:c.*136T>A (SGCG) MANE Select	NP_000222.2:n.*136T>A
NM_001378244.1:c.*136T>A (SGCG)	NP_001365173.1:n.*136T>A
NM_001378245.1:c.*136T>A (SGCG)	NP_001365174.1:n.*136T>A
NM_001378246.1:c.*136T>A (SGCG)	NP_001365175.1:n.*136T>A