Canonical Allele Identifier: CA6910449

Gene: SACS

Linked Data

• ClinVar Variation Id: 1929660
• ClinVar RCV Id: RCV002626401
• dbSNP Id: rs200950824
• ExAC: 13:23907561 A / G
• gnomAD v2: 13-23907561-A-G
• gnomAD v3: 13-23333422-A-G
• gnomAD v4: 13-23333422-A-G
• MyVariant Identifiers: chr13:g.23907561A>G (hg19) ; chr13:g.23333422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333422A>G , CM000675.2:g.23333422A>G	GRCh38
NC_000013.10:g.23907561A>G , CM000675.1:g.23907561A>G	GRCh37
NC_000013.9:g.22805561A>G	NCBI36
NG_012342.1:g.105281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20363T>C	ENSP00000508399.1:n.2185+20363T>C
ENST00000682944.1:c.10481T>C	ENSP00000507173.1:p.Ile3494Thr
ENST00000683210.1:c.2185+20363T>C	ENSP00000506739.1:n.2185+20363T>C
ENST00000683270.1:c.6446-3938T>C	ENSP00000507624.1:n.6446-3938T>C
ENST00000683367.1:c.2177-3938T>C	ENSP00000507780.1:n.2177-3938T>C
ENST00000683489.1:c.2292-3470T>C	ENSP00000508403.1:n.2292-3470T>C
ENST00000683680.1:c.2319-3470T>C	ENSP00000507223.1:n.2319-3470T>C
ENST00000684163.1:c.2204-3938T>C	ENSP00000508262.1:n.2204-3938T>C
ENST00000684196.1:n.4543-3938T>C
ENST00000684325.1:c.2186-11748T>C	ENSP00000508121.1:n.2186-11748T>C
ENST00000684385.1:c.2221-3938T>C	ENSP00000507855.1:n.2221-3938T>C
ENST00000684497.1:c.2186-10778T>C	ENSP00000507057.1:n.2186-10778T>C
ENST00000382292.9:c.10454T>C MANE Select	ENSP00000371729.3:p.Ile3485Thr
ENST00000423156.2:c.2186-3938T>C	ENSP00000390925.2:n.2186-3938T>C
ENST00000455470.6:c.2432-3938T>C	ENSP00000406565.2:n.2432-3938T>C
ENST00000382292.7:c.10454T>C	ENSP00000371729.3:p.Ile3485Thr
ENST00000382298.7:c.10454T>C	ENSP00000371735.3:p.Ile3485Thr
ENST00000402364.1:c.8204T>C	ENSP00000385844.1:p.Ile2735Thr
ENST00000423156.1:c.1058-3938T>C	ENSP00000390925.1:n.1058-3938T>C
ENST00000455470.5:c.2130-3938T>C
NM_001278055.1:c.10013T>C	NP_001264984.1:p.Ile3338Thr
NM_014363.5:c.10454T>C	NP_055178.3:p.Ile3485Thr
XM_005266338.1:c.10481T>C	XP_005266395.1:p.Ile3494Thr
XM_011535038.1:c.10505T>C	XP_011533340.1:p.Ile3502Thr
XM_011535039.1:c.10472T>C	XP_011533341.1:p.Ile3491Thr
XM_005266338.2:c.10481T>C	XP_005266395.1:p.Ile3494Thr
XM_011535039.2:c.10472T>C	XP_011533341.1:p.Ile3491Thr
XM_017020539.1:c.10445T>C	XP_016876028.1:p.Ile3482Thr
XM_024449337.1:c.10481T>C	XP_024305105.1:p.Ile3494Thr
NM_014363.6:c.10454T>C MANE Select	NP_055178.3:p.Ile3485Thr
NM_001278055.2:c.10013T>C	NP_001264984.1:p.Ile3338Thr