Canonical Allele Identifier: CA6912061

Gene: SACS

Linked Data

• ClinVar Variation Id: 2083461
• ClinVar RCV Id: RCV003002548
• dbSNP Id: rs747962075
• ExAC: 13:23932543 T / C
• gnomAD v2: 13-23932543-T-C
• gnomAD v4: 13-23358404-T-C
• MyVariant Identifiers: chr13:g.23932543T>C (hg19) ; chr13:g.23358404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358404T>C , CM000675.2:g.23358404T>C	GRCh38
NC_000013.10:g.23932543T>C , CM000675.1:g.23932543T>C	GRCh37
NC_000013.9:g.22830543T>C	NCBI36
NG_012342.1:g.80299A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.535A>G	ENSP00000508399.1:p.Arg179Gly
ENST00000682944.1:c.535A>G	ENSP00000507173.1:p.Arg179Gly
ENST00000683154.1:n.673A>G
ENST00000683210.1:c.535A>G	ENSP00000506739.1:p.Arg179Gly
ENST00000683270.1:c.526A>G	ENSP00000507624.1:p.Arg176Gly
ENST00000683367.1:c.526A>G	ENSP00000507780.1:p.Arg176Gly
ENST00000683489.1:c.535A>G	ENSP00000508403.1:p.Arg179Gly
ENST00000683680.1:c.535A>G	ENSP00000507223.1:p.Arg179Gly
ENST00000684163.1:c.526A>G	ENSP00000508262.1:p.Arg176Gly
ENST00000684196.1:n.2892A>G
ENST00000684325.1:c.535A>G	ENSP00000508121.1:p.Arg179Gly
ENST00000684385.1:c.535A>G	ENSP00000507855.1:p.Arg179Gly
ENST00000684497.1:c.535A>G	ENSP00000507057.1:p.Arg179Gly
ENST00000382292.9:c.535A>G MANE Select	ENSP00000371729.3:p.Arg179Gly
ENST00000423156.2:c.535A>G	ENSP00000390925.2:p.Arg179Gly
ENST00000455470.6:c.535A>G	ENSP00000406565.2:p.Arg179Gly
ENST00000382292.7:c.535A>G	ENSP00000371729.3:p.Arg179Gly
ENST00000382298.7:c.535A>G	ENSP00000371735.3:p.Arg179Gly
ENST00000402364.1:c.-1716A>G	ENSP00000385844.1:n.-1716A>G
ENST00000455470.5:c.233A>G
NM_001278055.1:c.94A>G	NP_001264984.1:p.Arg32Gly
NM_014363.5:c.535A>G	NP_055178.3:p.Arg179Gly
XM_005266338.1:c.535A>G	XP_005266395.1:p.Arg179Gly
XM_011535038.1:c.559A>G	XP_011533340.1:p.Arg187Gly
XM_011535039.1:c.526A>G	XP_011533341.1:p.Arg176Gly
XM_005266338.2:c.535A>G	XP_005266395.1:p.Arg179Gly
XM_011535039.2:c.526A>G	XP_011533341.1:p.Arg176Gly
XM_017020539.1:c.526A>G	XP_016876028.1:p.Arg176Gly
XM_024449337.1:c.535A>G	XP_024305105.1:p.Arg179Gly
NM_014363.6:c.535A>G MANE Select	NP_055178.3:p.Arg179Gly
NM_001278055.2:c.94A>G	NP_001264984.1:p.Arg32Gly