Canonical Allele Identifier: CA483157711

Gene: SACS

Linked Data

• ClinVar Variation Id: 1605852
• ClinVar RCV Id: RCV002137463
• dbSNP Id: rs1883424394
• gnomAD v4: 13-23330901-T-C
• MyVariant Identifiers: chr13:g.23905040T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330901T>C , CM000675.2:g.23330901T>C	GRCh38
NC_000013.10:g.23905040T>C , CM000675.1:g.23905040T>C	GRCh37
NC_000013.9:g.22803040T>C	NCBI36
NG_012342.1:g.107802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18786A>G	ENSP00000508399.1:n.2186-18786A>G
ENST00000682944.1:c.13002A>G	ENSP00000507173.1:p.Arg4334=
ENST00000683210.1:c.2185+22884A>G	ENSP00000506739.1:n.2185+22884A>G
ENST00000683270.1:c.6446-1417A>G	ENSP00000507624.1:n.6446-1417A>G
ENST00000683367.1:c.2177-1417A>G	ENSP00000507780.1:n.2177-1417A>G
ENST00000683489.1:c.2292-949A>G	ENSP00000508403.1:n.2292-949A>G
ENST00000683680.1:c.2319-949A>G	ENSP00000507223.1:n.2319-949A>G
ENST00000684163.1:c.2204-1417A>G	ENSP00000508262.1:n.2204-1417A>G
ENST00000684196.1:n.4543-1417A>G
ENST00000684325.1:c.2186-9227A>G	ENSP00000508121.1:n.2186-9227A>G
ENST00000684385.1:c.2221-1417A>G	ENSP00000507855.1:n.2221-1417A>G
ENST00000684497.1:c.2186-8257A>G	ENSP00000507057.1:n.2186-8257A>G
ENST00000382292.9:c.12975A>G MANE Select	ENSP00000371729.3:p.Arg4325=
ENST00000423156.2:c.2186-1417A>G	ENSP00000390925.2:n.2186-1417A>G
ENST00000455470.6:c.2432-1417A>G	ENSP00000406565.2:n.2432-1417A>G
ENST00000382292.7:c.12975A>G	ENSP00000371729.3:p.Arg4325=
ENST00000382298.7:c.12975A>G	ENSP00000371735.3:p.Arg4325=
ENST00000402364.1:c.10725A>G	ENSP00000385844.1:p.Arg3575=
ENST00000423156.1:c.1058-1417A>G	ENSP00000390925.1:n.1058-1417A>G
ENST00000455470.5:c.2130-1417A>G
NM_001278055.1:c.12534A>G	NP_001264984.1:p.Arg4178=
NM_014363.5:c.12975A>G	NP_055178.3:p.Arg4325=
XM_005266338.1:c.13002A>G	XP_005266395.1:p.Arg4334=
XM_011535038.1:c.13026A>G	XP_011533340.1:p.Arg4342=
XM_011535039.1:c.12993A>G	XP_011533341.1:p.Arg4331=
XM_005266338.2:c.13002A>G	XP_005266395.1:p.Arg4334=
XM_011535039.2:c.12993A>G	XP_011533341.1:p.Arg4331=
XM_017020539.1:c.12966A>G	XP_016876028.1:p.Arg4322=
XM_024449337.1:c.13002A>G	XP_024305105.1:p.Arg4334=
NM_014363.6:c.12975A>G MANE Select	NP_055178.3:p.Arg4325=
NM_001278055.2:c.12534A>G	NP_001264984.1:p.Arg4178=