Canonical Allele Identifier: CA387511230

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907142C>T (hg19) ; chr13:g.23333003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333003C>T , CM000675.2:g.23333003C>T	GRCh38
NC_000013.10:g.23907142C>T , CM000675.1:g.23907142C>T	GRCh37
NC_000013.9:g.22805142C>T	NCBI36
NG_012342.1:g.105700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20782G>A	ENSP00000508399.1:n.2185+20782G>A
ENST00000682944.1:c.10900G>A	ENSP00000507173.1:p.Val3634Ile
ENST00000683210.1:c.2185+20782G>A	ENSP00000506739.1:n.2185+20782G>A
ENST00000683270.1:c.6446-3519G>A	ENSP00000507624.1:n.6446-3519G>A
ENST00000683367.1:c.2177-3519G>A	ENSP00000507780.1:n.2177-3519G>A
ENST00000683489.1:c.2292-3051G>A	ENSP00000508403.1:n.2292-3051G>A
ENST00000683680.1:c.2319-3051G>A	ENSP00000507223.1:n.2319-3051G>A
ENST00000684163.1:c.2204-3519G>A	ENSP00000508262.1:n.2204-3519G>A
ENST00000684196.1:n.4543-3519G>A
ENST00000684325.1:c.2186-11329G>A	ENSP00000508121.1:n.2186-11329G>A
ENST00000684385.1:c.2221-3519G>A	ENSP00000507855.1:n.2221-3519G>A
ENST00000684497.1:c.2186-10359G>A	ENSP00000507057.1:n.2186-10359G>A
ENST00000382292.9:c.10873G>A MANE Select	ENSP00000371729.3:p.Val3625Ile
ENST00000423156.2:c.2186-3519G>A	ENSP00000390925.2:n.2186-3519G>A
ENST00000455470.6:c.2432-3519G>A	ENSP00000406565.2:n.2432-3519G>A
ENST00000382292.7:c.10873G>A	ENSP00000371729.3:p.Val3625Ile
ENST00000382298.7:c.10873G>A	ENSP00000371735.3:p.Val3625Ile
ENST00000402364.1:c.8623G>A	ENSP00000385844.1:p.Val2875Ile
ENST00000423156.1:c.1058-3519G>A	ENSP00000390925.1:n.1058-3519G>A
ENST00000455470.5:c.2130-3519G>A
NM_001278055.1:c.10432G>A	NP_001264984.1:p.Val3478Ile
NM_014363.5:c.10873G>A	NP_055178.3:p.Val3625Ile
XM_005266338.1:c.10900G>A	XP_005266395.1:p.Val3634Ile
XM_011535038.1:c.10924G>A	XP_011533340.1:p.Val3642Ile
XM_011535039.1:c.10891G>A	XP_011533341.1:p.Val3631Ile
XM_005266338.2:c.10900G>A	XP_005266395.1:p.Val3634Ile
XM_011535039.2:c.10891G>A	XP_011533341.1:p.Val3631Ile
XM_017020539.1:c.10864G>A	XP_016876028.1:p.Val3622Ile
XM_024449337.1:c.10900G>A	XP_024305105.1:p.Val3634Ile
NM_014363.6:c.10873G>A MANE Select	NP_055178.3:p.Val3625Ile
NM_001278055.2:c.10432G>A	NP_001264984.1:p.Val3478Ile