Canonical Allele Identifier: CA483160882

Gene: SACS

Linked Data

• ClinVar Variation Id: 1579016
• ClinVar RCV Id: RCV002090910
• dbSNP Id: rs1868650796
• MyVariant Identifiers: chr13:g.23910953A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336814A>C , CM000675.2:g.23336814A>C	GRCh38
NC_000013.10:g.23910953A>C , CM000675.1:g.23910953A>C	GRCh37
NC_000013.9:g.22808953A>C	NCBI36
NG_012342.1:g.101889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16971T>G	ENSP00000508399.1:n.2185+16971T>G
ENST00000682944.1:c.7089T>G	ENSP00000507173.1:p.Val2363=
ENST00000683210.1:c.2185+16971T>G	ENSP00000506739.1:n.2185+16971T>G
ENST00000683270.1:c.6445+608T>G	ENSP00000507624.1:n.6445+608T>G
ENST00000683367.1:c.2177-7330T>G	ENSP00000507780.1:n.2177-7330T>G
ENST00000683489.1:c.2291+4771T>G	ENSP00000508403.1:n.2291+4771T>G
ENST00000683680.1:c.2318+4771T>G	ENSP00000507223.1:n.2318+4771T>G
ENST00000684163.1:c.2204-7330T>G	ENSP00000508262.1:n.2204-7330T>G
ENST00000684196.1:n.4543-7330T>G
ENST00000684325.1:c.2186-15140T>G	ENSP00000508121.1:n.2186-15140T>G
ENST00000684385.1:c.2221-7330T>G	ENSP00000507855.1:n.2221-7330T>G
ENST00000684497.1:c.2186-14170T>G	ENSP00000507057.1:n.2186-14170T>G
ENST00000382292.9:c.7062T>G MANE Select	ENSP00000371729.3:p.Val2354=
ENST00000423156.2:c.2186-7330T>G	ENSP00000390925.2:n.2186-7330T>G
ENST00000455470.6:c.2431+4631T>G	ENSP00000406565.2:n.2431+4631T>G
ENST00000382292.7:c.7062T>G	ENSP00000371729.3:p.Val2354=
ENST00000382298.7:c.7062T>G	ENSP00000371735.3:p.Val2354=
ENST00000402364.1:c.4812T>G	ENSP00000385844.1:p.Val1604=
ENST00000423156.1:c.1058-7330T>G	ENSP00000390925.1:n.1058-7330T>G
ENST00000455470.5:c.2129+4631T>G
NM_001278055.1:c.6621T>G	NP_001264984.1:p.Val2207=
NM_014363.5:c.7062T>G	NP_055178.3:p.Val2354=
XM_005266338.1:c.7089T>G	XP_005266395.1:p.Val2363=
XM_011535038.1:c.7113T>G	XP_011533340.1:p.Val2371=
XM_011535039.1:c.7080T>G	XP_011533341.1:p.Val2360=
XM_005266338.2:c.7089T>G	XP_005266395.1:p.Val2363=
XM_011535039.2:c.7080T>G	XP_011533341.1:p.Val2360=
XM_017020539.1:c.7053T>G	XP_016876028.1:p.Val2351=
XM_024449337.1:c.7089T>G	XP_024305105.1:p.Val2363=
NM_014363.6:c.7062T>G MANE Select	NP_055178.3:p.Val2354=
NM_001278055.2:c.6621T>G	NP_001264984.1:p.Val2207=