Canonical Allele Identifier: CA6910139

Gene: SACS

Linked Data

• ClinVar Variation Id: 946482
• ClinVar RCV Id: RCV001217357 ; RCV001828724
• dbSNP Id: rs764098635
• ExAC: 13:23905515 G / A
• gnomAD v2: 13-23905515-G-A
• gnomAD v3: 13-23331376-G-A
• gnomAD v4: 13-23331376-G-A
• MyVariant Identifiers: chr13:g.23905515G>A (hg19) ; chr13:g.23331376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331376G>A , CM000675.2:g.23331376G>A	GRCh38
NC_000013.10:g.23905515G>A , CM000675.1:g.23905515G>A	GRCh37
NC_000013.9:g.22803515G>A	NCBI36
NG_012342.1:g.107327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19261C>T	ENSP00000508399.1:n.2186-19261C>T
ENST00000682944.1:c.12527C>T	ENSP00000507173.1:p.Thr4176Ile
ENST00000683210.1:c.2185+22409C>T	ENSP00000506739.1:n.2185+22409C>T
ENST00000683270.1:c.6446-1892C>T	ENSP00000507624.1:n.6446-1892C>T
ENST00000683367.1:c.2177-1892C>T	ENSP00000507780.1:n.2177-1892C>T
ENST00000683489.1:c.2292-1424C>T	ENSP00000508403.1:n.2292-1424C>T
ENST00000683680.1:c.2319-1424C>T	ENSP00000507223.1:n.2319-1424C>T
ENST00000684163.1:c.2204-1892C>T	ENSP00000508262.1:n.2204-1892C>T
ENST00000684196.1:n.4543-1892C>T
ENST00000684325.1:c.2186-9702C>T	ENSP00000508121.1:n.2186-9702C>T
ENST00000684385.1:c.2221-1892C>T	ENSP00000507855.1:n.2221-1892C>T
ENST00000684497.1:c.2186-8732C>T	ENSP00000507057.1:n.2186-8732C>T
ENST00000382292.9:c.12500C>T MANE Select	ENSP00000371729.3:p.Thr4167Ile
ENST00000423156.2:c.2186-1892C>T	ENSP00000390925.2:n.2186-1892C>T
ENST00000455470.6:c.2432-1892C>T	ENSP00000406565.2:n.2432-1892C>T
ENST00000382292.7:c.12500C>T	ENSP00000371729.3:p.Thr4167Ile
ENST00000382298.7:c.12500C>T	ENSP00000371735.3:p.Thr4167Ile
ENST00000402364.1:c.10250C>T	ENSP00000385844.1:p.Thr3417Ile
ENST00000423156.1:c.1058-1892C>T	ENSP00000390925.1:n.1058-1892C>T
ENST00000455470.5:c.2130-1892C>T
NM_001278055.1:c.12059C>T	NP_001264984.1:p.Thr4020Ile
NM_014363.5:c.12500C>T	NP_055178.3:p.Thr4167Ile
XM_005266338.1:c.12527C>T	XP_005266395.1:p.Thr4176Ile
XM_011535038.1:c.12551C>T	XP_011533340.1:p.Thr4184Ile
XM_011535039.1:c.12518C>T	XP_011533341.1:p.Thr4173Ile
XM_005266338.2:c.12527C>T	XP_005266395.1:p.Thr4176Ile
XM_011535039.2:c.12518C>T	XP_011533341.1:p.Thr4173Ile
XM_017020539.1:c.12491C>T	XP_016876028.1:p.Thr4164Ile
XM_024449337.1:c.12527C>T	XP_024305105.1:p.Thr4176Ile
NM_014363.6:c.12500C>T MANE Select	NP_055178.3:p.Thr4167Ile
NM_001278055.2:c.12059C>T	NP_001264984.1:p.Thr4020Ile