Canonical Allele Identifier: CA483161592

Gene: SACS

Linked Data

• ClinVar Variation Id: 1123693
• ClinVar RCV Id: RCV001454833
• dbSNP Id: rs1868643917
• gnomAD v4: 13-23336745-C-T
• MyVariant Identifiers: chr13:g.23910884C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336745C>T , CM000675.2:g.23336745C>T	GRCh38
NC_000013.10:g.23910884C>T , CM000675.1:g.23910884C>T	GRCh37
NC_000013.9:g.22808884C>T	NCBI36
NG_012342.1:g.101958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17040G>A	ENSP00000508399.1:n.2185+17040G>A
ENST00000682944.1:c.7158G>A	ENSP00000507173.1:p.Lys2386=
ENST00000683210.1:c.2185+17040G>A	ENSP00000506739.1:n.2185+17040G>A
ENST00000683270.1:c.6445+677G>A	ENSP00000507624.1:n.6445+677G>A
ENST00000683367.1:c.2177-7261G>A	ENSP00000507780.1:n.2177-7261G>A
ENST00000683489.1:c.2291+4840G>A	ENSP00000508403.1:n.2291+4840G>A
ENST00000683680.1:c.2318+4840G>A	ENSP00000507223.1:n.2318+4840G>A
ENST00000684163.1:c.2204-7261G>A	ENSP00000508262.1:n.2204-7261G>A
ENST00000684196.1:n.4543-7261G>A
ENST00000684325.1:c.2186-15071G>A	ENSP00000508121.1:n.2186-15071G>A
ENST00000684385.1:c.2221-7261G>A	ENSP00000507855.1:n.2221-7261G>A
ENST00000684497.1:c.2186-14101G>A	ENSP00000507057.1:n.2186-14101G>A
ENST00000382292.9:c.7131G>A MANE Select	ENSP00000371729.3:p.Lys2377=
ENST00000423156.2:c.2186-7261G>A	ENSP00000390925.2:n.2186-7261G>A
ENST00000455470.6:c.2431+4700G>A	ENSP00000406565.2:n.2431+4700G>A
ENST00000382292.7:c.7131G>A	ENSP00000371729.3:p.Lys2377=
ENST00000382298.7:c.7131G>A	ENSP00000371735.3:p.Lys2377=
ENST00000402364.1:c.4881G>A	ENSP00000385844.1:p.Lys1627=
ENST00000423156.1:c.1058-7261G>A	ENSP00000390925.1:n.1058-7261G>A
ENST00000455470.5:c.2129+4700G>A
NM_001278055.1:c.6690G>A	NP_001264984.1:p.Lys2230=
NM_014363.5:c.7131G>A	NP_055178.3:p.Lys2377=
XM_005266338.1:c.7158G>A	XP_005266395.1:p.Lys2386=
XM_011535038.1:c.7182G>A	XP_011533340.1:p.Lys2394=
XM_011535039.1:c.7149G>A	XP_011533341.1:p.Lys2383=
XM_005266338.2:c.7158G>A	XP_005266395.1:p.Lys2386=
XM_011535039.2:c.7149G>A	XP_011533341.1:p.Lys2383=
XM_017020539.1:c.7122G>A	XP_016876028.1:p.Lys2374=
XM_024449337.1:c.7158G>A	XP_024305105.1:p.Lys2386=
NM_014363.6:c.7131G>A MANE Select	NP_055178.3:p.Lys2377=
NM_001278055.2:c.6690G>A	NP_001264984.1:p.Lys2230=