Canonical Allele Identifier: CA387511560

Gene: SACS

Linked Data

• ClinVar Variation Id: 969206
• ClinVar RCV Id: RCV001244500
• dbSNP Id: rs370579192
• gnomAD v4: 13-23333152-T-A
• MyVariant Identifiers: chr13:g.23907291T>A (hg19) ; chr13:g.23333152T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333152T>A , CM000675.2:g.23333152T>A	GRCh38
NC_000013.10:g.23907291T>A , CM000675.1:g.23907291T>A	GRCh37
NC_000013.9:g.22805291T>A	NCBI36
NG_012342.1:g.105551A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20633A>T	ENSP00000508399.1:n.2185+20633A>T
ENST00000682944.1:c.10751A>T	ENSP00000507173.1:p.His3584Leu
ENST00000683210.1:c.2185+20633A>T	ENSP00000506739.1:n.2185+20633A>T
ENST00000683270.1:c.6446-3668A>T	ENSP00000507624.1:n.6446-3668A>T
ENST00000683367.1:c.2177-3668A>T	ENSP00000507780.1:n.2177-3668A>T
ENST00000683489.1:c.2292-3200A>T	ENSP00000508403.1:n.2292-3200A>T
ENST00000683680.1:c.2319-3200A>T	ENSP00000507223.1:n.2319-3200A>T
ENST00000684163.1:c.2204-3668A>T	ENSP00000508262.1:n.2204-3668A>T
ENST00000684196.1:n.4543-3668A>T
ENST00000684325.1:c.2186-11478A>T	ENSP00000508121.1:n.2186-11478A>T
ENST00000684385.1:c.2221-3668A>T	ENSP00000507855.1:n.2221-3668A>T
ENST00000684497.1:c.2186-10508A>T	ENSP00000507057.1:n.2186-10508A>T
ENST00000382292.9:c.10724A>T MANE Select	ENSP00000371729.3:p.His3575Leu
ENST00000423156.2:c.2186-3668A>T	ENSP00000390925.2:n.2186-3668A>T
ENST00000455470.6:c.2432-3668A>T	ENSP00000406565.2:n.2432-3668A>T
ENST00000382292.7:c.10724A>T	ENSP00000371729.3:p.His3575Leu
ENST00000382298.7:c.10724A>T	ENSP00000371735.3:p.His3575Leu
ENST00000402364.1:c.8474A>T	ENSP00000385844.1:p.His2825Leu
ENST00000423156.1:c.1058-3668A>T	ENSP00000390925.1:n.1058-3668A>T
ENST00000455470.5:c.2130-3668A>T
NM_001278055.1:c.10283A>T	NP_001264984.1:p.His3428Leu
NM_014363.5:c.10724A>T	NP_055178.3:p.His3575Leu
XM_005266338.1:c.10751A>T	XP_005266395.1:p.His3584Leu
XM_011535038.1:c.10775A>T	XP_011533340.1:p.His3592Leu
XM_011535039.1:c.10742A>T	XP_011533341.1:p.His3581Leu
XM_005266338.2:c.10751A>T	XP_005266395.1:p.His3584Leu
XM_011535039.2:c.10742A>T	XP_011533341.1:p.His3581Leu
XM_017020539.1:c.10715A>T	XP_016876028.1:p.His3572Leu
XM_024449337.1:c.10751A>T	XP_024305105.1:p.His3584Leu
NM_014363.6:c.10724A>T MANE Select	NP_055178.3:p.His3575Leu
NM_001278055.2:c.10283A>T	NP_001264984.1:p.His3428Leu