Canonical Allele Identifier: CA482918217

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 1637609
• ClinVar RCV Id: RCV002137867
• dbSNP Id: rs2137534138
• gnomAD v4: 13-23324433-C-A
• MyVariant Identifiers: chr13:g.23898572C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324433C>A , CM000675.2:g.23324433C>A	GRCh38
NC_000013.10:g.23898572C>A , CM000675.1:g.23898572C>A	GRCh37
NC_000013.9:g.22796572C>A	NCBI36
NG_008759.1:g.148513C>A , LRG_207:g.148513C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-12318G>T (SACS)	ENSP00000508399.1:n.2186-12318G>T
ENST00000683210.1:c.2185+29352G>T (SACS)	ENSP00000506739.1:n.2185+29352G>T
ENST00000684325.1:c.2186-2759G>T (SACS)	ENSP00000508121.1:n.2186-2759G>T
ENST00000684497.1:c.2186-1789G>T (SACS)	ENSP00000507057.1:n.2186-1789G>T
ENST00000218867.4:c.768C>A (SGCG) MANE Select	ENSP00000218867.3:p.Gly256=
ENST00000218867.3:c.768C>A (SGCG)	ENSP00000218867.3:p.Gly256=
NM_000231.2:c.768C>A , LRG_207t1:c.768C>A (SGCG)	NP_000222.1:p.Gly256=
XM_005266505.2:c.768C>A (SGCG)	XP_005266562.1:p.Gly256=
XM_006719861.2:c.822C>A (SGCG)	XP_006719924.1:p.Gly274=
XM_006719861.3:c.822C>A (SGCG)	XP_006719924.1:p.Gly274=
XM_024449397.1:c.768C>A (SGCG)	XP_024305165.1:p.Gly256=
NM_000231.3:c.768C>A (SGCG) MANE Select	NP_000222.2:p.Gly256=
NM_001378244.1:c.822C>A (SGCG)	NP_001365173.1:p.Gly274=
NM_001378245.1:c.768C>A (SGCG)	NP_001365174.1:p.Gly256=
NM_001378246.1:c.768C>A (SGCG)	NP_001365175.1:p.Gly256=