Canonical Allele Identifier: CA387505746

Gene: SACS

Linked Data

• ClinVar Variation Id: 949465
• ClinVar RCV Id: RCV001220927
• dbSNP Id: rs1300062381
• MyVariant Identifiers: chr13:g.23904801G>A (hg19) ; chr13:g.23330662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330662G>A , CM000675.2:g.23330662G>A	GRCh38
NC_000013.10:g.23904801G>A , CM000675.1:g.23904801G>A	GRCh37
NC_000013.9:g.22802801G>A	NCBI36
NG_012342.1:g.108041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18547C>T	ENSP00000508399.1:n.2186-18547C>T
ENST00000682944.1:c.13241C>T	ENSP00000507173.1:p.Ala4414Val
ENST00000683210.1:c.2185+23123C>T	ENSP00000506739.1:n.2185+23123C>T
ENST00000683270.1:c.6446-1178C>T	ENSP00000507624.1:n.6446-1178C>T
ENST00000683367.1:c.2177-1178C>T	ENSP00000507780.1:n.2177-1178C>T
ENST00000683489.1:c.2292-710C>T	ENSP00000508403.1:n.2292-710C>T
ENST00000683680.1:c.2319-710C>T	ENSP00000507223.1:n.2319-710C>T
ENST00000684163.1:c.2204-1178C>T	ENSP00000508262.1:n.2204-1178C>T
ENST00000684196.1:n.4543-1178C>T
ENST00000684325.1:c.2186-8988C>T	ENSP00000508121.1:n.2186-8988C>T
ENST00000684385.1:c.2221-1178C>T	ENSP00000507855.1:n.2221-1178C>T
ENST00000684497.1:c.2186-8018C>T	ENSP00000507057.1:n.2186-8018C>T
ENST00000382292.9:c.13214C>T MANE Select	ENSP00000371729.3:p.Ala4405Val
ENST00000423156.2:c.2186-1178C>T	ENSP00000390925.2:n.2186-1178C>T
ENST00000455470.6:c.2432-1178C>T	ENSP00000406565.2:n.2432-1178C>T
ENST00000382292.7:c.13214C>T	ENSP00000371729.3:p.Ala4405Val
ENST00000382298.7:c.13214C>T	ENSP00000371735.3:p.Ala4405Val
ENST00000402364.1:c.10964C>T	ENSP00000385844.1:p.Ala3655Val
ENST00000423156.1:c.1058-1178C>T	ENSP00000390925.1:n.1058-1178C>T
ENST00000455470.5:c.2130-1178C>T
NM_001278055.1:c.12773C>T	NP_001264984.1:p.Ala4258Val
NM_014363.5:c.13214C>T	NP_055178.3:p.Ala4405Val
XM_005266338.1:c.13241C>T	XP_005266395.1:p.Ala4414Val
XM_011535038.1:c.13265C>T	XP_011533340.1:p.Ala4422Val
XM_011535039.1:c.13232C>T	XP_011533341.1:p.Ala4411Val
XM_005266338.2:c.13241C>T	XP_005266395.1:p.Ala4414Val
XM_011535039.2:c.13232C>T	XP_011533341.1:p.Ala4411Val
XM_017020539.1:c.13205C>T	XP_016876028.1:p.Ala4402Val
XM_024449337.1:c.13241C>T	XP_024305105.1:p.Ala4414Val
NM_014363.6:c.13214C>T MANE Select	NP_055178.3:p.Ala4405Val
NM_001278055.2:c.12773C>T	NP_001264984.1:p.Ala4258Val