Canonical Allele Identifier: CA483161337

Gene: SACS

Linked Data

• ClinVar Variation Id: 1537697
• ClinVar RCV Id: RCV002092745
• dbSNP Id: rs2137607122
• MyVariant Identifiers: chr13:g.23911274T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337135T>G , CM000675.2:g.23337135T>G	GRCh38
NC_000013.10:g.23911274T>G , CM000675.1:g.23911274T>G	GRCh37
NC_000013.9:g.22809274T>G	NCBI36
NG_012342.1:g.101568A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16650A>C	ENSP00000508399.1:n.2185+16650A>C
ENST00000682944.1:c.6768A>C	ENSP00000507173.1:p.Thr2256=
ENST00000683210.1:c.2185+16650A>C	ENSP00000506739.1:n.2185+16650A>C
ENST00000683270.1:c.6445+287A>C	ENSP00000507624.1:n.6445+287A>C
ENST00000683367.1:c.2177-7651A>C	ENSP00000507780.1:n.2177-7651A>C
ENST00000683489.1:c.2291+4450A>C	ENSP00000508403.1:n.2291+4450A>C
ENST00000683680.1:c.2318+4450A>C	ENSP00000507223.1:n.2318+4450A>C
ENST00000684163.1:c.2204-7651A>C	ENSP00000508262.1:n.2204-7651A>C
ENST00000684196.1:n.4543-7651A>C
ENST00000684325.1:c.2186-15461A>C	ENSP00000508121.1:n.2186-15461A>C
ENST00000684385.1:c.2221-7651A>C	ENSP00000507855.1:n.2221-7651A>C
ENST00000684497.1:c.2186-14491A>C	ENSP00000507057.1:n.2186-14491A>C
ENST00000382292.9:c.6741A>C MANE Select	ENSP00000371729.3:p.Thr2247=
ENST00000423156.2:c.2186-7651A>C	ENSP00000390925.2:n.2186-7651A>C
ENST00000455470.6:c.2431+4310A>C	ENSP00000406565.2:n.2431+4310A>C
ENST00000382292.7:c.6741A>C	ENSP00000371729.3:p.Thr2247=
ENST00000382298.7:c.6741A>C	ENSP00000371735.3:p.Thr2247=
ENST00000402364.1:c.4491A>C	ENSP00000385844.1:p.Thr1497=
ENST00000423156.1:c.1058-7651A>C	ENSP00000390925.1:n.1058-7651A>C
ENST00000455470.5:c.2129+4310A>C
NM_001278055.1:c.6300A>C	NP_001264984.1:p.Thr2100=
NM_014363.5:c.6741A>C	NP_055178.3:p.Thr2247=
XM_005266338.1:c.6768A>C	XP_005266395.1:p.Thr2256=
XM_011535038.1:c.6792A>C	XP_011533340.1:p.Thr2264=
XM_011535039.1:c.6759A>C	XP_011533341.1:p.Thr2253=
XM_005266338.2:c.6768A>C	XP_005266395.1:p.Thr2256=
XM_011535039.2:c.6759A>C	XP_011533341.1:p.Thr2253=
XM_017020539.1:c.6732A>C	XP_016876028.1:p.Thr2244=
XM_024449337.1:c.6768A>C	XP_024305105.1:p.Thr2256=
NM_014363.6:c.6741A>C MANE Select	NP_055178.3:p.Thr2247=
NM_001278055.2:c.6300A>C	NP_001264984.1:p.Thr2100=