Canonical Allele Identifier: CA387502962

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 461625
• ClinVar RCV Id: RCV000532127
• dbSNP Id: rs1555248000
• MyVariant Identifiers: chr13:g.23894900G>C (hg19) ; chr13:g.23320761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23320761G>C , CM000675.2:g.23320761G>C	GRCh38
NC_000013.10:g.23894900G>C , CM000675.1:g.23894900G>C	GRCh37
NC_000013.9:g.22792900G>C	NCBI36
NG_008759.1:g.144841G>C , LRG_207:g.144841G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-8646C>G (SACS)	ENSP00000508399.1:n.2186-8646C>G
ENST00000683210.1:c.2186-31518C>G (SACS)	ENSP00000506739.1:n.2186-31518C>G
ENST00000684325.1:c.*104+805C>G (SACS)	ENSP00000508121.1:n.*104+805C>G
ENST00000218867.4:c.702+1G>C (SGCG) MANE Select	ENSP00000218867.3:n.702+1G>C
ENST00000218867.3:c.702+1G>C (SGCG)	ENSP00000218867.3:n.702+1G>C
NM_000231.2:c.702+1G>C , LRG_207t1:c.702+1G>C (SGCG)	NP_000222.1:n.702+1G>C
XM_005266505.2:c.702+1G>C (SGCG)	XP_005266562.1:n.702+1G>C
XM_006719861.2:c.756+1G>C (SGCG)	XP_006719924.1:n.756+1G>C
XM_006719861.3:c.756+1G>C (SGCG)	XP_006719924.1:n.756+1G>C
XM_024449397.1:c.702+1G>C (SGCG)	XP_024305165.1:n.702+1G>C
XR_001749787.1:n.1181+805C>G
NM_000231.3:c.702+1G>C (SGCG) MANE Select	NP_000222.2:n.702+1G>C
NM_001378244.1:c.756+1G>C (SGCG)	NP_001365173.1:n.756+1G>C
NM_001378245.1:c.702+1G>C (SGCG)	NP_001365174.1:n.702+1G>C
NM_001378246.1:c.702+1G>C (SGCG)	NP_001365175.1:n.702+1G>C