Canonical Allele Identifier: CA696619522

Gene: SACS SGCG

Linked Data

• dbSNP Id: rs1233565907
• gnomAD v4: 13-23324597-A-G
• MyVariant Identifiers: chr13:g.23898736A>G (hg19) ; chr13:g.23324597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324597A>G , CM000675.2:g.23324597A>G	GRCh38
NC_000013.10:g.23898736A>G , CM000675.1:g.23898736A>G	GRCh37
NC_000013.9:g.22796736A>G	NCBI36
NG_008759.1:g.148677A>G , LRG_207:g.148677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12482T>C (SACS)	ENSP00000508399.1:n.2186-12482T>C
ENST00000683210.1:c.2185+29188T>C (SACS)	ENSP00000506739.1:n.2185+29188T>C
ENST00000684325.1:c.2186-2923T>C (SACS)	ENSP00000508121.1:n.2186-2923T>C
ENST00000684497.1:c.2186-1953T>C (SACS)	ENSP00000507057.1:n.2186-1953T>C
ENST00000218867.4:c.*56A>G (SGCG) MANE Select	ENSP00000218867.3:n.*56A>G
ENST00000218867.3:c.*56A>G (SGCG)	ENSP00000218867.3:n.*56A>G
NM_000231.2:c.*56A>G , LRG_207t1:c.*56A>G (SGCG)	NP_000222.1:n.*56A>G
XM_005266505.2:c.*56A>G (SGCG)	XP_005266562.1:n.*56A>G
XM_006719861.2:c.*56A>G (SGCG)	XP_006719924.1:n.*56A>G
XM_006719861.3:c.*56A>G (SGCG)	XP_006719924.1:n.*56A>G
XM_024449397.1:c.*56A>G (SGCG)	XP_024305165.1:n.*56A>G
NM_000231.3:c.*56A>G (SGCG) MANE Select	NP_000222.2:n.*56A>G
NM_001378244.1:c.*56A>G (SGCG)	NP_001365173.1:n.*56A>G
NM_001378245.1:c.*56A>G (SGCG)	NP_001365174.1:n.*56A>G
NM_001378246.1:c.*56A>G (SGCG)	NP_001365175.1:n.*56A>G