Canonical Allele Identifier: CA483159134

Gene: SACS

Linked Data

• ClinVar Variation Id: 2861097
• ClinVar RCV Id: RCV003752472
• MyVariant Identifiers: chr13:g.23906885T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332746T>C , CM000675.2:g.23332746T>C	GRCh38
NC_000013.10:g.23906885T>C , CM000675.1:g.23906885T>C	GRCh37
NC_000013.9:g.22804885T>C	NCBI36
NG_012342.1:g.105957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20631A>G	ENSP00000508399.1:n.2186-20631A>G
ENST00000682944.1:c.11157A>G	ENSP00000507173.1:p.Lys3719=
ENST00000683210.1:c.2185+21039A>G	ENSP00000506739.1:n.2185+21039A>G
ENST00000683270.1:c.6446-3262A>G	ENSP00000507624.1:n.6446-3262A>G
ENST00000683367.1:c.2177-3262A>G	ENSP00000507780.1:n.2177-3262A>G
ENST00000683489.1:c.2292-2794A>G	ENSP00000508403.1:n.2292-2794A>G
ENST00000683680.1:c.2319-2794A>G	ENSP00000507223.1:n.2319-2794A>G
ENST00000684163.1:c.2204-3262A>G	ENSP00000508262.1:n.2204-3262A>G
ENST00000684196.1:n.4543-3262A>G
ENST00000684325.1:c.2186-11072A>G	ENSP00000508121.1:n.2186-11072A>G
ENST00000684385.1:c.2221-3262A>G	ENSP00000507855.1:n.2221-3262A>G
ENST00000684497.1:c.2186-10102A>G	ENSP00000507057.1:n.2186-10102A>G
ENST00000382292.9:c.11130A>G MANE Select	ENSP00000371729.3:p.Lys3710=
ENST00000423156.2:c.2186-3262A>G	ENSP00000390925.2:n.2186-3262A>G
ENST00000455470.6:c.2432-3262A>G	ENSP00000406565.2:n.2432-3262A>G
ENST00000382292.7:c.11130A>G	ENSP00000371729.3:p.Lys3710=
ENST00000382298.7:c.11130A>G	ENSP00000371735.3:p.Lys3710=
ENST00000402364.1:c.8880A>G	ENSP00000385844.1:p.Lys2960=
ENST00000423156.1:c.1058-3262A>G	ENSP00000390925.1:n.1058-3262A>G
ENST00000455470.5:c.2130-3262A>G
NM_001278055.1:c.10689A>G	NP_001264984.1:p.Lys3563=
NM_014363.5:c.11130A>G	NP_055178.3:p.Lys3710=
XM_005266338.1:c.11157A>G	XP_005266395.1:p.Lys3719=
XM_011535038.1:c.11181A>G	XP_011533340.1:p.Lys3727=
XM_011535039.1:c.11148A>G	XP_011533341.1:p.Lys3716=
XM_005266338.2:c.11157A>G	XP_005266395.1:p.Lys3719=
XM_011535039.2:c.11148A>G	XP_011533341.1:p.Lys3716=
XM_017020539.1:c.11121A>G	XP_016876028.1:p.Lys3707=
XM_024449337.1:c.11157A>G	XP_024305105.1:p.Lys3719=
NM_014363.6:c.11130A>G MANE Select	NP_055178.3:p.Lys3710=
NM_001278055.2:c.10689A>G	NP_001264984.1:p.Lys3563=