Canonical Allele Identifier: CA483157867

Gene: SACS

Linked Data

• ClinVar Variation Id: 1094651
• ClinVar RCV Id: RCV001415212
• dbSNP Id: rs767622491
• MyVariant Identifiers: chr13:g.23905354G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331215G>A , CM000675.2:g.23331215G>A	GRCh38
NC_000013.10:g.23905354G>A , CM000675.1:g.23905354G>A	GRCh37
NC_000013.9:g.22803354G>A	NCBI36
NG_012342.1:g.107488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19100C>T	ENSP00000508399.1:n.2186-19100C>T
ENST00000682944.1:c.12688C>T	ENSP00000507173.1:p.Leu4230=
ENST00000683210.1:c.2185+22570C>T	ENSP00000506739.1:n.2185+22570C>T
ENST00000683270.1:c.6446-1731C>T	ENSP00000507624.1:n.6446-1731C>T
ENST00000683367.1:c.2177-1731C>T	ENSP00000507780.1:n.2177-1731C>T
ENST00000683489.1:c.2292-1263C>T	ENSP00000508403.1:n.2292-1263C>T
ENST00000683680.1:c.2319-1263C>T	ENSP00000507223.1:n.2319-1263C>T
ENST00000684163.1:c.2204-1731C>T	ENSP00000508262.1:n.2204-1731C>T
ENST00000684196.1:n.4543-1731C>T
ENST00000684325.1:c.2186-9541C>T	ENSP00000508121.1:n.2186-9541C>T
ENST00000684385.1:c.2221-1731C>T	ENSP00000507855.1:n.2221-1731C>T
ENST00000684497.1:c.2186-8571C>T	ENSP00000507057.1:n.2186-8571C>T
ENST00000382292.9:c.12661C>T MANE Select	ENSP00000371729.3:p.Leu4221=
ENST00000423156.2:c.2186-1731C>T	ENSP00000390925.2:n.2186-1731C>T
ENST00000455470.6:c.2432-1731C>T	ENSP00000406565.2:n.2432-1731C>T
ENST00000382292.7:c.12661C>T	ENSP00000371729.3:p.Leu4221=
ENST00000382298.7:c.12661C>T	ENSP00000371735.3:p.Leu4221=
ENST00000402364.1:c.10411C>T	ENSP00000385844.1:p.Leu3471=
ENST00000423156.1:c.1058-1731C>T	ENSP00000390925.1:n.1058-1731C>T
ENST00000455470.5:c.2130-1731C>T
NM_001278055.1:c.12220C>T	NP_001264984.1:p.Leu4074=
NM_014363.5:c.12661C>T	NP_055178.3:p.Leu4221=
XM_005266338.1:c.12688C>T	XP_005266395.1:p.Leu4230=
XM_011535038.1:c.12712C>T	XP_011533340.1:p.Leu4238=
XM_011535039.1:c.12679C>T	XP_011533341.1:p.Leu4227=
XM_005266338.2:c.12688C>T	XP_005266395.1:p.Leu4230=
XM_011535039.2:c.12679C>T	XP_011533341.1:p.Leu4227=
XM_017020539.1:c.12652C>T	XP_016876028.1:p.Leu4218=
XM_024449337.1:c.12688C>T	XP_024305105.1:p.Leu4230=
NM_014363.6:c.12661C>T MANE Select	NP_055178.3:p.Leu4221=
NM_001278055.2:c.12220C>T	NP_001264984.1:p.Leu4074=