Canonical Allele Identifier: CA6909990

Gene: SACS

Linked Data

• ClinVar Variation Id: 805288
• ClinVar RCV Id: RCV000992778 ; RCV001832305 ; RCV002549808
• dbSNP Id: rs754693143
• ExAC: 13:23904742 C / T
• gnomAD v2: 13-23904742-C-T
• gnomAD v3: 13-23330603-C-T
• gnomAD v4: 13-23330603-C-T
• MyVariant Identifiers: chr13:g.23904742C>T (hg19) ; chr13:g.23330603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330603C>T , CM000675.2:g.23330603C>T	GRCh38
NC_000013.10:g.23904742C>T , CM000675.1:g.23904742C>T	GRCh37
NC_000013.9:g.22802742C>T	NCBI36
NG_012342.1:g.108100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18488G>A	ENSP00000508399.1:n.2186-18488G>A
ENST00000682944.1:c.13300G>A	ENSP00000507173.1:p.Gly4434Arg
ENST00000683210.1:c.2185+23182G>A	ENSP00000506739.1:n.2185+23182G>A
ENST00000683270.1:c.6446-1119G>A	ENSP00000507624.1:n.6446-1119G>A
ENST00000683367.1:c.2177-1119G>A	ENSP00000507780.1:n.2177-1119G>A
ENST00000683489.1:c.2292-651G>A	ENSP00000508403.1:n.2292-651G>A
ENST00000683680.1:c.2319-651G>A	ENSP00000507223.1:n.2319-651G>A
ENST00000684163.1:c.2204-1119G>A	ENSP00000508262.1:n.2204-1119G>A
ENST00000684196.1:n.4543-1119G>A
ENST00000684325.1:c.2186-8929G>A	ENSP00000508121.1:n.2186-8929G>A
ENST00000684385.1:c.2221-1119G>A	ENSP00000507855.1:n.2221-1119G>A
ENST00000684497.1:c.2186-7959G>A	ENSP00000507057.1:n.2186-7959G>A
ENST00000382292.9:c.13273G>A MANE Select	ENSP00000371729.3:p.Gly4425Arg
ENST00000423156.2:c.2186-1119G>A	ENSP00000390925.2:n.2186-1119G>A
ENST00000455470.6:c.2432-1119G>A	ENSP00000406565.2:n.2432-1119G>A
ENST00000382292.7:c.13273G>A	ENSP00000371729.3:p.Gly4425Arg
ENST00000382298.7:c.13273G>A	ENSP00000371735.3:p.Gly4425Arg
ENST00000402364.1:c.11023G>A	ENSP00000385844.1:p.Gly3675Arg
ENST00000423156.1:c.1058-1119G>A	ENSP00000390925.1:n.1058-1119G>A
ENST00000455470.5:c.2130-1119G>A
NM_001278055.1:c.12832G>A	NP_001264984.1:p.Gly4278Arg
NM_014363.5:c.13273G>A	NP_055178.3:p.Gly4425Arg
XM_005266338.1:c.13300G>A	XP_005266395.1:p.Gly4434Arg
XM_011535038.1:c.13324G>A	XP_011533340.1:p.Gly4442Arg
XM_011535039.1:c.13291G>A	XP_011533341.1:p.Gly4431Arg
XM_005266338.2:c.13300G>A	XP_005266395.1:p.Gly4434Arg
XM_011535039.2:c.13291G>A	XP_011533341.1:p.Gly4431Arg
XM_017020539.1:c.13264G>A	XP_016876028.1:p.Gly4422Arg
XM_024449337.1:c.13300G>A	XP_024305105.1:p.Gly4434Arg
NM_014363.6:c.13273G>A MANE Select	NP_055178.3:p.Gly4425Arg
NM_001278055.2:c.12832G>A	NP_001264984.1:p.Gly4278Arg