Canonical Allele Identifier: CA483161921

Gene: SACS

Linked Data

• ClinVar Variation Id: 727120
• ClinVar RCV Id: RCV002065692
• dbSNP Id: rs1593129510
• MyVariant Identifiers: chr13:g.23912180T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338041T>C , CM000675.2:g.23338041T>C	GRCh38
NC_000013.10:g.23912180T>C , CM000675.1:g.23912180T>C	GRCh37
NC_000013.9:g.22810180T>C	NCBI36
NG_012342.1:g.100662A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15744A>G	ENSP00000508399.1:n.2185+15744A>G
ENST00000682944.1:c.5862A>G	ENSP00000507173.1:p.Val1954=
ENST00000683210.1:c.2185+15744A>G	ENSP00000506739.1:n.2185+15744A>G
ENST00000683270.1:c.5826A>G	ENSP00000507624.1:p.Val1942=
ENST00000683367.1:c.2177-8557A>G	ENSP00000507780.1:n.2177-8557A>G
ENST00000683489.1:c.2291+3544A>G	ENSP00000508403.1:n.2291+3544A>G
ENST00000683680.1:c.2318+3544A>G	ENSP00000507223.1:n.2318+3544A>G
ENST00000684163.1:c.2204-8557A>G	ENSP00000508262.1:n.2204-8557A>G
ENST00000684196.1:n.4543-8557A>G
ENST00000684325.1:c.2185+15744A>G	ENSP00000508121.1:n.2185+15744A>G
ENST00000684385.1:c.2221-8557A>G	ENSP00000507855.1:n.2221-8557A>G
ENST00000684497.1:c.2186-15397A>G	ENSP00000507057.1:n.2186-15397A>G
ENST00000382292.9:c.5835A>G MANE Select	ENSP00000371729.3:p.Val1945=
ENST00000423156.2:c.2186-8557A>G	ENSP00000390925.2:n.2186-8557A>G
ENST00000455470.6:c.2431+3404A>G	ENSP00000406565.2:n.2431+3404A>G
ENST00000382292.7:c.5835A>G	ENSP00000371729.3:p.Val1945=
ENST00000382298.7:c.5835A>G	ENSP00000371735.3:p.Val1945=
ENST00000402364.1:c.3585A>G	ENSP00000385844.1:p.Val1195=
ENST00000423156.1:c.1058-8557A>G	ENSP00000390925.1:n.1058-8557A>G
ENST00000455470.5:c.2129+3404A>G
NM_001278055.1:c.5394A>G	NP_001264984.1:p.Val1798=
NM_014363.5:c.5835A>G	NP_055178.3:p.Val1945=
XM_005266338.1:c.5862A>G	XP_005266395.1:p.Val1954=
XM_011535038.1:c.5886A>G	XP_011533340.1:p.Val1962=
XM_011535039.1:c.5853A>G	XP_011533341.1:p.Val1951=
XM_005266338.2:c.5862A>G	XP_005266395.1:p.Val1954=
XM_011535039.2:c.5853A>G	XP_011533341.1:p.Val1951=
XM_017020539.1:c.5826A>G	XP_016876028.1:p.Val1942=
XM_024449337.1:c.5862A>G	XP_024305105.1:p.Val1954=
NM_014363.6:c.5835A>G MANE Select	NP_055178.3:p.Val1945=
NM_001278055.2:c.5394A>G	NP_001264984.1:p.Val1798=