Canonical Allele Identifier: CA387506410

Gene: SACS

Linked Data

• ClinVar Variation Id: 1806970
• ClinVar RCV Id: RCV002474399
• MyVariant Identifiers: chr13:g.23905083G>T (hg19) ; chr13:g.23330944G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330944G>T , CM000675.2:g.23330944G>T	GRCh38
NC_000013.10:g.23905083G>T , CM000675.1:g.23905083G>T	GRCh37
NC_000013.9:g.22803083G>T	NCBI36
NG_012342.1:g.107759C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18829C>A	ENSP00000508399.1:n.2186-18829C>A
ENST00000682944.1:c.12959C>A	ENSP00000507173.1:p.Thr4320Lys
ENST00000683210.1:c.2185+22841C>A	ENSP00000506739.1:n.2185+22841C>A
ENST00000683270.1:c.6446-1460C>A	ENSP00000507624.1:n.6446-1460C>A
ENST00000683367.1:c.2177-1460C>A	ENSP00000507780.1:n.2177-1460C>A
ENST00000683489.1:c.2292-992C>A	ENSP00000508403.1:n.2292-992C>A
ENST00000683680.1:c.2319-992C>A	ENSP00000507223.1:n.2319-992C>A
ENST00000684163.1:c.2204-1460C>A	ENSP00000508262.1:n.2204-1460C>A
ENST00000684196.1:n.4543-1460C>A
ENST00000684325.1:c.2186-9270C>A	ENSP00000508121.1:n.2186-9270C>A
ENST00000684385.1:c.2221-1460C>A	ENSP00000507855.1:n.2221-1460C>A
ENST00000684497.1:c.2186-8300C>A	ENSP00000507057.1:n.2186-8300C>A
ENST00000382292.9:c.12932C>A MANE Select	ENSP00000371729.3:p.Thr4311Lys
ENST00000423156.2:c.2186-1460C>A	ENSP00000390925.2:n.2186-1460C>A
ENST00000455470.6:c.2432-1460C>A	ENSP00000406565.2:n.2432-1460C>A
ENST00000382292.7:c.12932C>A	ENSP00000371729.3:p.Thr4311Lys
ENST00000382298.7:c.12932C>A	ENSP00000371735.3:p.Thr4311Lys
ENST00000402364.1:c.10682C>A	ENSP00000385844.1:p.Thr3561Lys
ENST00000423156.1:c.1058-1460C>A	ENSP00000390925.1:n.1058-1460C>A
ENST00000455470.5:c.2130-1460C>A
NM_001278055.1:c.12491C>A	NP_001264984.1:p.Thr4164Lys
NM_014363.5:c.12932C>A	NP_055178.3:p.Thr4311Lys
XM_005266338.1:c.12959C>A	XP_005266395.1:p.Thr4320Lys
XM_011535038.1:c.12983C>A	XP_011533340.1:p.Thr4328Lys
XM_011535039.1:c.12950C>A	XP_011533341.1:p.Thr4317Lys
XM_005266338.2:c.12959C>A	XP_005266395.1:p.Thr4320Lys
XM_011535039.2:c.12950C>A	XP_011533341.1:p.Thr4317Lys
XM_017020539.1:c.12923C>A	XP_016876028.1:p.Thr4308Lys
XM_024449337.1:c.12959C>A	XP_024305105.1:p.Thr4320Lys
NM_014363.6:c.12932C>A MANE Select	NP_055178.3:p.Thr4311Lys
NM_001278055.2:c.12491C>A	NP_001264984.1:p.Thr4164Lys