Canonical Allele Identifier: CA483163537

Gene: SACS

Linked Data

• ClinVar Variation Id: 995224
• ClinVar RCV Id: RCV001289168
• dbSNP Id: rs1869142388
• gnomAD v4: 13-23340879-A-T
• MyVariant Identifiers: chr13:g.23915018A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340879A>T , CM000675.2:g.23340879A>T	GRCh38
NC_000013.10:g.23915018A>T , CM000675.1:g.23915018A>T	GRCh37
NC_000013.9:g.22813018A>T	NCBI36
NG_012342.1:g.97824T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12906T>A	ENSP00000508399.1:n.2185+12906T>A
ENST00000682944.1:c.3024T>A	ENSP00000507173.1:p.Ile1008=
ENST00000683210.1:c.2185+12906T>A	ENSP00000506739.1:n.2185+12906T>A
ENST00000683270.1:c.2988T>A	ENSP00000507624.1:p.Ile996=
ENST00000683367.1:c.2177-11395T>A	ENSP00000507780.1:n.2177-11395T>A
ENST00000683489.1:c.2291+706T>A	ENSP00000508403.1:n.2291+706T>A
ENST00000683680.1:c.2318+706T>A	ENSP00000507223.1:n.2318+706T>A
ENST00000684163.1:c.2203+5932T>A	ENSP00000508262.1:n.2203+5932T>A
ENST00000684196.1:n.4543-11395T>A
ENST00000684325.1:c.2185+12906T>A	ENSP00000508121.1:n.2185+12906T>A
ENST00000684385.1:c.2220+5932T>A	ENSP00000507855.1:n.2220+5932T>A
ENST00000684497.1:c.2185+12906T>A	ENSP00000507057.1:n.2185+12906T>A
ENST00000382292.9:c.2997T>A MANE Select	ENSP00000371729.3:p.Ile999=
ENST00000423156.2:c.2186-11395T>A	ENSP00000390925.2:n.2186-11395T>A
ENST00000455470.6:c.2431+566T>A	ENSP00000406565.2:n.2431+566T>A
ENST00000382292.7:c.2997T>A	ENSP00000371729.3:p.Ile999=
ENST00000382298.7:c.2997T>A	ENSP00000371735.3:p.Ile999=
ENST00000402364.1:c.747T>A	ENSP00000385844.1:p.Ile249=
ENST00000423156.1:c.1058-11395T>A	ENSP00000390925.1:n.1058-11395T>A
ENST00000455470.5:c.2129+566T>A
NM_001278055.1:c.2556T>A	NP_001264984.1:p.Ile852=
NM_014363.5:c.2997T>A	NP_055178.3:p.Ile999=
XM_005266338.1:c.3024T>A	XP_005266395.1:p.Ile1008=
XM_011535038.1:c.3048T>A	XP_011533340.1:p.Ile1016=
XM_011535039.1:c.3015T>A	XP_011533341.1:p.Ile1005=
XM_005266338.2:c.3024T>A	XP_005266395.1:p.Ile1008=
XM_011535039.2:c.3015T>A	XP_011533341.1:p.Ile1005=
XM_017020539.1:c.2988T>A	XP_016876028.1:p.Ile996=
XM_024449337.1:c.3024T>A	XP_024305105.1:p.Ile1008=
NM_014363.6:c.2997T>A MANE Select	NP_055178.3:p.Ile999=
NM_001278055.2:c.2556T>A	NP_001264984.1:p.Ile852=