Canonical Allele Identifier: CA483164029

Gene: SACS

Linked Data

• ClinVar Variation Id: 3006845
• ClinVar RCV Id: RCV003861460
• gnomAD v4: 13-23354962-C-T
• MyVariant Identifiers: chr13:g.23929101C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354962C>T , CM000675.2:g.23354962C>T	GRCh38
NC_000013.10:g.23929101C>T , CM000675.1:g.23929101C>T	GRCh37
NC_000013.9:g.22827101C>T	NCBI36
NG_012342.1:g.83741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1650G>A	ENSP00000508399.1:p.Glu550=
ENST00000682944.1:c.1650G>A	ENSP00000507173.1:p.Glu550=
ENST00000683154.1:n.1788G>A
ENST00000683210.1:c.1650G>A	ENSP00000506739.1:p.Glu550=
ENST00000683270.1:c.1641G>A	ENSP00000507624.1:p.Glu547=
ENST00000683367.1:c.1641G>A	ENSP00000507780.1:p.Glu547=
ENST00000683489.1:c.1650G>A	ENSP00000508403.1:p.Glu550=
ENST00000683680.1:c.1650G>A	ENSP00000507223.1:p.Glu550=
ENST00000684163.1:c.1641G>A	ENSP00000508262.1:p.Glu547=
ENST00000684196.1:n.4007G>A
ENST00000684325.1:c.1650G>A	ENSP00000508121.1:p.Glu550=
ENST00000684385.1:c.1650G>A	ENSP00000507855.1:p.Glu550=
ENST00000684497.1:c.1650G>A	ENSP00000507057.1:p.Glu550=
ENST00000382292.9:c.1650G>A MANE Select	ENSP00000371729.3:p.Glu550=
ENST00000423156.2:c.1650G>A	ENSP00000390925.2:p.Glu550=
ENST00000455470.6:c.1650G>A	ENSP00000406565.2:p.Glu550=
ENST00000382292.7:c.1650G>A	ENSP00000371729.3:p.Glu550=
ENST00000382298.7:c.1650G>A	ENSP00000371735.3:p.Glu550=
ENST00000402364.1:c.-601G>A	ENSP00000385844.1:n.-601G>A
ENST00000423156.1:c.522G>A	ENSP00000390925.1:p.Glu174=
ENST00000455470.5:c.1348G>A
NM_001278055.1:c.1209G>A	NP_001264984.1:p.Glu403=
NM_014363.5:c.1650G>A	NP_055178.3:p.Glu550=
XM_005266338.1:c.1650G>A	XP_005266395.1:p.Glu550=
XM_011535038.1:c.1674G>A	XP_011533340.1:p.Glu558=
XM_011535039.1:c.1641G>A	XP_011533341.1:p.Glu547=
XM_005266338.2:c.1650G>A	XP_005266395.1:p.Glu550=
XM_011535039.2:c.1641G>A	XP_011533341.1:p.Glu547=
XM_017020539.1:c.1641G>A	XP_016876028.1:p.Glu547=
XM_024449337.1:c.1650G>A	XP_024305105.1:p.Glu550=
NM_014363.6:c.1650G>A MANE Select	NP_055178.3:p.Glu550=
NM_001278055.2:c.1209G>A	NP_001264984.1:p.Glu403=