Canonical Allele Identifier: CA483161300

Gene: SACS

Linked Data

• ClinVar Variation Id: 2825387
• ClinVar RCV Id: RCV003751945
• MyVariant Identifiers: chr13:g.23911115T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336976T>C , CM000675.2:g.23336976T>C	GRCh38
NC_000013.10:g.23911115T>C , CM000675.1:g.23911115T>C	GRCh37
NC_000013.9:g.22809115T>C	NCBI36
NG_012342.1:g.101727A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16809A>G	ENSP00000508399.1:n.2185+16809A>G
ENST00000682944.1:c.6927A>G	ENSP00000507173.1:p.Val2309=
ENST00000683210.1:c.2185+16809A>G	ENSP00000506739.1:n.2185+16809A>G
ENST00000683270.1:c.6445+446A>G	ENSP00000507624.1:n.6445+446A>G
ENST00000683367.1:c.2177-7492A>G	ENSP00000507780.1:n.2177-7492A>G
ENST00000683489.1:c.2291+4609A>G	ENSP00000508403.1:n.2291+4609A>G
ENST00000683680.1:c.2318+4609A>G	ENSP00000507223.1:n.2318+4609A>G
ENST00000684163.1:c.2204-7492A>G	ENSP00000508262.1:n.2204-7492A>G
ENST00000684196.1:n.4543-7492A>G
ENST00000684325.1:c.2186-15302A>G	ENSP00000508121.1:n.2186-15302A>G
ENST00000684385.1:c.2221-7492A>G	ENSP00000507855.1:n.2221-7492A>G
ENST00000684497.1:c.2186-14332A>G	ENSP00000507057.1:n.2186-14332A>G
ENST00000382292.9:c.6900A>G MANE Select	ENSP00000371729.3:p.Val2300=
ENST00000423156.2:c.2186-7492A>G	ENSP00000390925.2:n.2186-7492A>G
ENST00000455470.6:c.2431+4469A>G	ENSP00000406565.2:n.2431+4469A>G
ENST00000382292.7:c.6900A>G	ENSP00000371729.3:p.Val2300=
ENST00000382298.7:c.6900A>G	ENSP00000371735.3:p.Val2300=
ENST00000402364.1:c.4650A>G	ENSP00000385844.1:p.Val1550=
ENST00000423156.1:c.1058-7492A>G	ENSP00000390925.1:n.1058-7492A>G
ENST00000455470.5:c.2129+4469A>G
NM_001278055.1:c.6459A>G	NP_001264984.1:p.Val2153=
NM_014363.5:c.6900A>G	NP_055178.3:p.Val2300=
XM_005266338.1:c.6927A>G	XP_005266395.1:p.Val2309=
XM_011535038.1:c.6951A>G	XP_011533340.1:p.Val2317=
XM_011535039.1:c.6918A>G	XP_011533341.1:p.Val2306=
XM_005266338.2:c.6927A>G	XP_005266395.1:p.Val2309=
XM_011535039.2:c.6918A>G	XP_011533341.1:p.Val2306=
XM_017020539.1:c.6891A>G	XP_016876028.1:p.Val2297=
XM_024449337.1:c.6927A>G	XP_024305105.1:p.Val2309=
NM_014363.6:c.6900A>G MANE Select	NP_055178.3:p.Val2300=
NM_001278055.2:c.6459A>G	NP_001264984.1:p.Val2153=