Canonical Allele Identifier: CA10576342

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 226415
• ClinVar RCV Id: RCV000211579
• dbSNP Id: rs875989949
• MyVariant Identifiers: chr13:g.23894887T>A (hg19) ; chr13:g.23320748T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23320748T>A , CM000675.2:g.23320748T>A	GRCh38
NC_000013.10:g.23894887T>A , CM000675.1:g.23894887T>A	GRCh37
NC_000013.9:g.22792887T>A	NCBI36
NG_008759.1:g.144828T>A , LRG_207:g.144828T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-8633A>T (SACS)	ENSP00000508399.1:n.2186-8633A>T
ENST00000683210.1:c.2186-31505A>T (SACS)	ENSP00000506739.1:n.2186-31505A>T
ENST00000684325.1:c.*104+818A>T (SACS)	ENSP00000508121.1:n.*104+818A>T
ENST00000218867.4:c.690T>A (SGCG) MANE Select	ENSP00000218867.3:p.Ser230Arg
ENST00000218867.3:c.690T>A (SGCG)	ENSP00000218867.3:p.Ser230Arg
NM_000231.2:c.690T>A , LRG_207t1:c.690T>A (SGCG)	NP_000222.1:p.Ser230Arg
XM_005266505.2:c.690T>A (SGCG)	XP_005266562.1:p.Ser230Arg
XM_006719861.2:c.744T>A (SGCG)	XP_006719924.1:p.Ser248Arg
XM_006719861.3:c.744T>A (SGCG)	XP_006719924.1:p.Ser248Arg
XM_024449397.1:c.690T>A (SGCG)	XP_024305165.1:p.Ser230Arg
XR_001749787.1:n.1181+818A>T
NM_000231.3:c.690T>A (SGCG) MANE Select	NP_000222.2:p.Ser230Arg
NM_001378244.1:c.744T>A (SGCG)	NP_001365173.1:p.Ser248Arg
NM_001378245.1:c.690T>A (SGCG)	NP_001365174.1:p.Ser230Arg
NM_001378246.1:c.690T>A (SGCG)	NP_001365175.1:p.Ser230Arg