Canonical Allele Identifier: CA6910236

Gene: SACS

Linked Data

• ClinVar Variation Id: 411691
• ClinVar RCV Id: RCV000458276 ; RCV000624366 ; RCV001785620
• dbSNP Id: rs774906736
• ExAC: 13:23906308 G / A
• gnomAD v2: 13-23906308-G-A
• gnomAD v3: 13-23332169-G-A
• gnomAD v4: 13-23332169-G-A
• COSMIC: COSM4046498 ; COSM4046499
• MyVariant Identifiers: chr13:g.23906308G>A (hg19) ; chr13:g.23332169G>A (hg38)
• PubMed: PMID:8472930 ; PMID:10655055 ; PMID:11788093 ; PMID:12873855 ; PMID:14718708 ; PMID:15985586 ; PMID:16007637 ; PMID:16961075 ; PMID:17683082 ; PMID:17846221 ; PMID:18465152 ; PMID:19208651 ; PMID:20876471 ; PMID:21450511 ; PMID:22441213 ; PMID:22751902 ; PMID:23280630 ; PMID:23497566 ; PMID:25401298 ; PMID:26288984 ; PMID:27871429

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332169G>A , CM000675.2:g.23332169G>A	GRCh38
NC_000013.10:g.23906308G>A , CM000675.1:g.23906308G>A	GRCh37
NC_000013.9:g.22804308G>A	NCBI36
NG_012342.1:g.106534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20054C>T	ENSP00000508399.1:n.2186-20054C>T
ENST00000682944.1:c.11734C>T	ENSP00000507173.1:p.Arg3912Ter
ENST00000683210.1:c.2185+21616C>T	ENSP00000506739.1:n.2185+21616C>T
ENST00000683270.1:c.6446-2685C>T	ENSP00000507624.1:n.6446-2685C>T
ENST00000683367.1:c.2177-2685C>T	ENSP00000507780.1:n.2177-2685C>T
ENST00000683489.1:c.2292-2217C>T	ENSP00000508403.1:n.2292-2217C>T
ENST00000683680.1:c.2319-2217C>T	ENSP00000507223.1:n.2319-2217C>T
ENST00000684163.1:c.2204-2685C>T	ENSP00000508262.1:n.2204-2685C>T
ENST00000684196.1:n.4543-2685C>T
ENST00000684325.1:c.2186-10495C>T	ENSP00000508121.1:n.2186-10495C>T
ENST00000684385.1:c.2221-2685C>T	ENSP00000507855.1:n.2221-2685C>T
ENST00000684497.1:c.2186-9525C>T	ENSP00000507057.1:n.2186-9525C>T
ENST00000382292.9:c.11707C>T MANE Select	ENSP00000371729.3:p.Arg3903Ter
ENST00000423156.2:c.2186-2685C>T	ENSP00000390925.2:n.2186-2685C>T
ENST00000455470.6:c.2432-2685C>T	ENSP00000406565.2:n.2432-2685C>T
ENST00000382292.7:c.11707C>T	ENSP00000371729.3:p.Arg3903Ter
ENST00000382298.7:c.11707C>T	ENSP00000371735.3:p.Arg3903Ter
ENST00000402364.1:c.9457C>T	ENSP00000385844.1:p.Arg3153Ter
ENST00000423156.1:c.1058-2685C>T	ENSP00000390925.1:n.1058-2685C>T
ENST00000455470.5:c.2130-2685C>T
NM_001278055.1:c.11266C>T	NP_001264984.1:p.Arg3756Ter
NM_014363.5:c.11707C>T	NP_055178.3:p.Arg3903Ter
XM_005266338.1:c.11734C>T	XP_005266395.1:p.Arg3912Ter
XM_011535038.1:c.11758C>T	XP_011533340.1:p.Arg3920Ter
XM_011535039.1:c.11725C>T	XP_011533341.1:p.Arg3909Ter
XM_005266338.2:c.11734C>T	XP_005266395.1:p.Arg3912Ter
XM_011535039.2:c.11725C>T	XP_011533341.1:p.Arg3909Ter
XM_017020539.1:c.11698C>T	XP_016876028.1:p.Arg3900Ter
XM_024449337.1:c.11734C>T	XP_024305105.1:p.Arg3912Ter
NM_014363.6:c.11707C>T MANE Select	NP_055178.3:p.Arg3903Ter
NM_001278055.2:c.11266C>T	NP_001264984.1:p.Arg3756Ter