Canonical Allele Identifier: CA387504403

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 499009
• ClinVar RCV Id: RCV000592624 ; RCV001347465
• dbSNP Id: rs1555245351
• gnomAD v4: 13-23295484-T-G
• MyVariant Identifiers: chr13:g.23869623T>G (hg19) ; chr13:g.23295484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23295484T>G , CM000675.2:g.23295484T>G	GRCh38
NC_000013.10:g.23869623T>G , CM000675.1:g.23869623T>G	GRCh37
NC_000013.9:g.22767623T>G	NCBI36
NG_008759.1:g.119564T>G , LRG_207:g.119564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683210.1:c.2186-6241A>C (SACS)	ENSP00000506739.1:n.2186-6241A>C
ENST00000218867.4:c.575T>G (SGCG) MANE Select	ENSP00000218867.3:p.Leu192Arg
ENST00000218867.3:c.575T>G (SGCG)	ENSP00000218867.3:p.Leu192Arg
NM_000231.2:c.575T>G , LRG_207t1:c.575T>G (SGCG)	NP_000222.1:p.Leu192Arg
XM_005266505.2:c.575T>G (SGCG)	XP_005266562.1:p.Leu192Arg
XM_006719861.2:c.629T>G (SGCG)	XP_006719924.1:p.Leu210Arg
XM_006719861.3:c.629T>G (SGCG)	XP_006719924.1:p.Leu210Arg
XM_024449397.1:c.575T>G (SGCG)	XP_024305165.1:p.Leu192Arg
NM_000231.3:c.575T>G (SGCG) MANE Select	NP_000222.2:p.Leu192Arg
NM_001378244.1:c.629T>G (SGCG)	NP_001365173.1:p.Leu210Arg
NM_001378245.1:c.575T>G (SGCG)	NP_001365174.1:p.Leu192Arg
NM_001378246.1:c.575T>G (SGCG)	NP_001365175.1:p.Leu192Arg