Canonical Allele Identifier: CA387505455

Gene: SACS

Linked Data

• ClinVar Variation Id: 2412730
• ClinVar RCV Id: RCV002790004 ; RCV004017968
• gnomAD v4: 13-23330526-C-T
• MyVariant Identifiers: chr13:g.23904665C>T (hg19) ; chr13:g.23330526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330526C>T , CM000675.2:g.23330526C>T	GRCh38
NC_000013.10:g.23904665C>T , CM000675.1:g.23904665C>T	GRCh37
NC_000013.9:g.22802665C>T	NCBI36
NG_012342.1:g.108177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18411G>A	ENSP00000508399.1:n.2186-18411G>A
ENST00000682944.1:c.13377G>A	ENSP00000507173.1:p.Trp4459Ter
ENST00000683210.1:c.2185+23259G>A	ENSP00000506739.1:n.2185+23259G>A
ENST00000683270.1:c.6446-1042G>A	ENSP00000507624.1:n.6446-1042G>A
ENST00000683367.1:c.2177-1042G>A	ENSP00000507780.1:n.2177-1042G>A
ENST00000683489.1:c.2292-574G>A	ENSP00000508403.1:n.2292-574G>A
ENST00000683680.1:c.2319-574G>A	ENSP00000507223.1:n.2319-574G>A
ENST00000684163.1:c.2204-1042G>A	ENSP00000508262.1:n.2204-1042G>A
ENST00000684196.1:n.4543-1042G>A
ENST00000684325.1:c.2186-8852G>A	ENSP00000508121.1:n.2186-8852G>A
ENST00000684385.1:c.2221-1042G>A	ENSP00000507855.1:n.2221-1042G>A
ENST00000684497.1:c.2186-7882G>A	ENSP00000507057.1:n.2186-7882G>A
ENST00000382292.9:c.13350G>A MANE Select	ENSP00000371729.3:p.Trp4450Ter
ENST00000423156.2:c.2186-1042G>A	ENSP00000390925.2:n.2186-1042G>A
ENST00000455470.6:c.2432-1042G>A	ENSP00000406565.2:n.2432-1042G>A
ENST00000382292.7:c.13350G>A	ENSP00000371729.3:p.Trp4450Ter
ENST00000382298.7:c.13350G>A	ENSP00000371735.3:p.Trp4450Ter
ENST00000402364.1:c.11100G>A	ENSP00000385844.1:p.Trp3700Ter
ENST00000423156.1:c.1058-1042G>A	ENSP00000390925.1:n.1058-1042G>A
ENST00000455470.5:c.2130-1042G>A
NM_001278055.1:c.12909G>A	NP_001264984.1:p.Trp4303Ter
NM_014363.5:c.13350G>A	NP_055178.3:p.Trp4450Ter
XM_005266338.1:c.13377G>A	XP_005266395.1:p.Trp4459Ter
XM_011535038.1:c.13401G>A	XP_011533340.1:p.Trp4467Ter
XM_011535039.1:c.13368G>A	XP_011533341.1:p.Trp4456Ter
XM_005266338.2:c.13377G>A	XP_005266395.1:p.Trp4459Ter
XM_011535039.2:c.13368G>A	XP_011533341.1:p.Trp4456Ter
XM_017020539.1:c.13341G>A	XP_016876028.1:p.Trp4447Ter
XM_024449337.1:c.13377G>A	XP_024305105.1:p.Trp4459Ter
NM_014363.6:c.13350G>A MANE Select	NP_055178.3:p.Trp4450Ter
NM_001278055.2:c.12909G>A	NP_001264984.1:p.Trp4303Ter