Canonical Allele Identifier: CA483157758

Gene: SACS

Linked Data

• ClinVar Variation Id: 1124501
• ClinVar RCV Id: RCV001455861
• dbSNP Id: rs1478206117
• MyVariant Identifiers: chr13:g.23904923T>C (hg19) ; chr13:g.23330784T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330784T>C , CM000675.2:g.23330784T>C	GRCh38
NC_000013.10:g.23904923T>C , CM000675.1:g.23904923T>C	GRCh37
NC_000013.9:g.22802923T>C	NCBI36
NG_012342.1:g.107919A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18669A>G	ENSP00000508399.1:n.2186-18669A>G
ENST00000682944.1:c.13119A>G	ENSP00000507173.1:p.Lys4373=
ENST00000683210.1:c.2185+23001A>G	ENSP00000506739.1:n.2185+23001A>G
ENST00000683270.1:c.6446-1300A>G	ENSP00000507624.1:n.6446-1300A>G
ENST00000683367.1:c.2177-1300A>G	ENSP00000507780.1:n.2177-1300A>G
ENST00000683489.1:c.2292-832A>G	ENSP00000508403.1:n.2292-832A>G
ENST00000683680.1:c.2319-832A>G	ENSP00000507223.1:n.2319-832A>G
ENST00000684163.1:c.2204-1300A>G	ENSP00000508262.1:n.2204-1300A>G
ENST00000684196.1:n.4543-1300A>G
ENST00000684325.1:c.2186-9110A>G	ENSP00000508121.1:n.2186-9110A>G
ENST00000684385.1:c.2221-1300A>G	ENSP00000507855.1:n.2221-1300A>G
ENST00000684497.1:c.2186-8140A>G	ENSP00000507057.1:n.2186-8140A>G
ENST00000382292.9:c.13092A>G MANE Select	ENSP00000371729.3:p.Lys4364=
ENST00000423156.2:c.2186-1300A>G	ENSP00000390925.2:n.2186-1300A>G
ENST00000455470.6:c.2432-1300A>G	ENSP00000406565.2:n.2432-1300A>G
ENST00000382292.7:c.13092A>G	ENSP00000371729.3:p.Lys4364=
ENST00000382298.7:c.13092A>G	ENSP00000371735.3:p.Lys4364=
ENST00000402364.1:c.10842A>G	ENSP00000385844.1:p.Lys3614=
ENST00000423156.1:c.1058-1300A>G	ENSP00000390925.1:n.1058-1300A>G
ENST00000455470.5:c.2130-1300A>G
NM_001278055.1:c.12651A>G	NP_001264984.1:p.Lys4217=
NM_014363.5:c.13092A>G	NP_055178.3:p.Lys4364=
XM_005266338.1:c.13119A>G	XP_005266395.1:p.Lys4373=
XM_011535038.1:c.13143A>G	XP_011533340.1:p.Lys4381=
XM_011535039.1:c.13110A>G	XP_011533341.1:p.Lys4370=
XM_005266338.2:c.13119A>G	XP_005266395.1:p.Lys4373=
XM_011535039.2:c.13110A>G	XP_011533341.1:p.Lys4370=
XM_017020539.1:c.13083A>G	XP_016876028.1:p.Lys4361=
XM_024449337.1:c.13119A>G	XP_024305105.1:p.Lys4373=
NM_014363.6:c.13092A>G MANE Select	NP_055178.3:p.Lys4364=
NM_001278055.2:c.12651A>G	NP_001264984.1:p.Lys4217=