Canonical Allele Identifier: CA6910606

Gene: SACS

Linked Data

• ClinVar Variation Id: 448229
• ClinVar RCV Id: RCV000518073 ; RCV000560872 ; RCV001113533
• dbSNP Id: rs143557803
• ExAC: 13:23908465 G / A
• gnomAD v2: 13-23908465-G-A
• gnomAD v3: 13-23334326-G-A
• gnomAD v4: 13-23334326-G-A
• MyVariant Identifiers: chr13:g.23908465G>A (hg19) ; chr13:g.23334326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334326G>A , CM000675.2:g.23334326G>A	GRCh38
NC_000013.10:g.23908465G>A , CM000675.1:g.23908465G>A	GRCh37
NC_000013.9:g.22806465G>A	NCBI36
NG_012342.1:g.104377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19459C>T	ENSP00000508399.1:n.2185+19459C>T
ENST00000682944.1:c.9577C>T	ENSP00000507173.1:p.Arg3193Cys
ENST00000683210.1:c.2185+19459C>T	ENSP00000506739.1:n.2185+19459C>T
ENST00000683270.1:c.6445+3096C>T	ENSP00000507624.1:n.6445+3096C>T
ENST00000683367.1:c.2177-4842C>T	ENSP00000507780.1:n.2177-4842C>T
ENST00000683489.1:c.2292-4374C>T	ENSP00000508403.1:n.2292-4374C>T
ENST00000683680.1:c.2319-4374C>T	ENSP00000507223.1:n.2319-4374C>T
ENST00000684163.1:c.2204-4842C>T	ENSP00000508262.1:n.2204-4842C>T
ENST00000684196.1:n.4543-4842C>T
ENST00000684325.1:c.2186-12652C>T	ENSP00000508121.1:n.2186-12652C>T
ENST00000684385.1:c.2221-4842C>T	ENSP00000507855.1:n.2221-4842C>T
ENST00000684497.1:c.2186-11682C>T	ENSP00000507057.1:n.2186-11682C>T
ENST00000382292.9:c.9550C>T MANE Select	ENSP00000371729.3:p.Arg3184Cys
ENST00000423156.2:c.2186-4842C>T	ENSP00000390925.2:n.2186-4842C>T
ENST00000455470.6:c.2432-4842C>T	ENSP00000406565.2:n.2432-4842C>T
ENST00000382292.7:c.9550C>T	ENSP00000371729.3:p.Arg3184Cys
ENST00000382298.7:c.9550C>T	ENSP00000371735.3:p.Arg3184Cys
ENST00000402364.1:c.7300C>T	ENSP00000385844.1:p.Arg2434Cys
ENST00000423156.1:c.1058-4842C>T	ENSP00000390925.1:n.1058-4842C>T
ENST00000455470.5:c.2130-4842C>T
NM_001278055.1:c.9109C>T	NP_001264984.1:p.Arg3037Cys
NM_014363.5:c.9550C>T	NP_055178.3:p.Arg3184Cys
XM_005266338.1:c.9577C>T	XP_005266395.1:p.Arg3193Cys
XM_011535038.1:c.9601C>T	XP_011533340.1:p.Arg3201Cys
XM_011535039.1:c.9568C>T	XP_011533341.1:p.Arg3190Cys
XM_005266338.2:c.9577C>T	XP_005266395.1:p.Arg3193Cys
XM_011535039.2:c.9568C>T	XP_011533341.1:p.Arg3190Cys
XM_017020539.1:c.9541C>T	XP_016876028.1:p.Arg3181Cys
XM_024449337.1:c.9577C>T	XP_024305105.1:p.Arg3193Cys
NM_014363.6:c.9550C>T MANE Select	NP_055178.3:p.Arg3184Cys
NM_001278055.2:c.9109C>T	NP_001264984.1:p.Arg3037Cys