Canonical Allele Identifier: CA483164172

Gene: SACS

Linked Data

• ClinVar Variation Id: 1108324
• ClinVar RCV Id: RCV001433791
• dbSNP Id: rs2137721558
• gnomAD v4: 13-23355090-G-A
• MyVariant Identifiers: chr13:g.23929229G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355090G>A , CM000675.2:g.23355090G>A	GRCh38
NC_000013.10:g.23929229G>A , CM000675.1:g.23929229G>A	GRCh37
NC_000013.9:g.22827229G>A	NCBI36
NG_012342.1:g.83613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1522C>T	ENSP00000508399.1:p.Leu508=
ENST00000682944.1:c.1522C>T	ENSP00000507173.1:p.Leu508=
ENST00000683154.1:n.1660C>T
ENST00000683210.1:c.1522C>T	ENSP00000506739.1:p.Leu508=
ENST00000683270.1:c.1513C>T	ENSP00000507624.1:p.Leu505=
ENST00000683367.1:c.1513C>T	ENSP00000507780.1:p.Leu505=
ENST00000683489.1:c.1522C>T	ENSP00000508403.1:p.Leu508=
ENST00000683680.1:c.1522C>T	ENSP00000507223.1:p.Leu508=
ENST00000684163.1:c.1513C>T	ENSP00000508262.1:p.Leu505=
ENST00000684196.1:n.3879C>T
ENST00000684325.1:c.1522C>T	ENSP00000508121.1:p.Leu508=
ENST00000684385.1:c.1522C>T	ENSP00000507855.1:p.Leu508=
ENST00000684497.1:c.1522C>T	ENSP00000507057.1:p.Leu508=
ENST00000382292.9:c.1522C>T MANE Select	ENSP00000371729.3:p.Leu508=
ENST00000423156.2:c.1522C>T	ENSP00000390925.2:p.Leu508=
ENST00000455470.6:c.1522C>T	ENSP00000406565.2:p.Leu508=
ENST00000382292.7:c.1522C>T	ENSP00000371729.3:p.Leu508=
ENST00000382298.7:c.1522C>T	ENSP00000371735.3:p.Leu508=
ENST00000402364.1:c.-729C>T	ENSP00000385844.1:n.-729C>T
ENST00000423156.1:c.394C>T	ENSP00000390925.1:p.Leu132=
ENST00000455470.5:c.1220C>T
NM_001278055.1:c.1081C>T	NP_001264984.1:p.Leu361=
NM_014363.5:c.1522C>T	NP_055178.3:p.Leu508=
XM_005266338.1:c.1522C>T	XP_005266395.1:p.Leu508=
XM_011535038.1:c.1546C>T	XP_011533340.1:p.Leu516=
XM_011535039.1:c.1513C>T	XP_011533341.1:p.Leu505=
XM_005266338.2:c.1522C>T	XP_005266395.1:p.Leu508=
XM_011535039.2:c.1513C>T	XP_011533341.1:p.Leu505=
XM_017020539.1:c.1513C>T	XP_016876028.1:p.Leu505=
XM_024449337.1:c.1522C>T	XP_024305105.1:p.Leu508=
NM_014363.6:c.1522C>T MANE Select	NP_055178.3:p.Leu508=
NM_001278055.2:c.1081C>T	NP_001264984.1:p.Leu361=