Canonical Allele Identifier: CA483163079

Gene: SACS

Linked Data

• ClinVar Variation Id: 1121775
• ClinVar RCV Id: RCV001452189 ; RCV003399238
• dbSNP Id: rs1395418477
• gnomAD v4: 13-23339763-A-T
• MyVariant Identifiers: chr13:g.23913902A>T (hg19) ; chr13:g.23339763A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339763A>T , CM000675.2:g.23339763A>T	GRCh38
NC_000013.10:g.23913902A>T , CM000675.1:g.23913902A>T	GRCh37
NC_000013.9:g.22811902A>T	NCBI36
NG_012342.1:g.98940T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14022T>A	ENSP00000508399.1:n.2185+14022T>A
ENST00000682944.1:c.4140T>A	ENSP00000507173.1:p.Ile1380=
ENST00000683210.1:c.2185+14022T>A	ENSP00000506739.1:n.2185+14022T>A
ENST00000683270.1:c.4104T>A	ENSP00000507624.1:p.Ile1368=
ENST00000683367.1:c.2177-10279T>A	ENSP00000507780.1:n.2177-10279T>A
ENST00000683489.1:c.2291+1822T>A	ENSP00000508403.1:n.2291+1822T>A
ENST00000683680.1:c.2318+1822T>A	ENSP00000507223.1:n.2318+1822T>A
ENST00000684163.1:c.2203+7048T>A	ENSP00000508262.1:n.2203+7048T>A
ENST00000684196.1:n.4543-10279T>A
ENST00000684325.1:c.2185+14022T>A	ENSP00000508121.1:n.2185+14022T>A
ENST00000684385.1:c.2220+7048T>A	ENSP00000507855.1:n.2220+7048T>A
ENST00000684497.1:c.2185+14022T>A	ENSP00000507057.1:n.2185+14022T>A
ENST00000382292.9:c.4113T>A MANE Select	ENSP00000371729.3:p.Ile1371=
ENST00000423156.2:c.2186-10279T>A	ENSP00000390925.2:n.2186-10279T>A
ENST00000455470.6:c.2431+1682T>A	ENSP00000406565.2:n.2431+1682T>A
ENST00000382292.7:c.4113T>A	ENSP00000371729.3:p.Ile1371=
ENST00000382298.7:c.4113T>A	ENSP00000371735.3:p.Ile1371=
ENST00000402364.1:c.1863T>A	ENSP00000385844.1:p.Ile621=
ENST00000423156.1:c.1058-10279T>A	ENSP00000390925.1:n.1058-10279T>A
ENST00000455470.5:c.2129+1682T>A
NM_001278055.1:c.3672T>A	NP_001264984.1:p.Ile1224=
NM_014363.5:c.4113T>A	NP_055178.3:p.Ile1371=
XM_005266338.1:c.4140T>A	XP_005266395.1:p.Ile1380=
XM_011535038.1:c.4164T>A	XP_011533340.1:p.Ile1388=
XM_011535039.1:c.4131T>A	XP_011533341.1:p.Ile1377=
XM_005266338.2:c.4140T>A	XP_005266395.1:p.Ile1380=
XM_011535039.2:c.4131T>A	XP_011533341.1:p.Ile1377=
XM_017020539.1:c.4104T>A	XP_016876028.1:p.Ile1368=
XM_024449337.1:c.4140T>A	XP_024305105.1:p.Ile1380=
NM_014363.6:c.4113T>A MANE Select	NP_055178.3:p.Ile1371=
NM_001278055.2:c.3672T>A	NP_001264984.1:p.Ile1224=