Canonical Allele Identifier: CA6911694

Gene: SACS

Linked Data

• ClinVar Variation Id: 2044239
• ClinVar RCV Id: RCV002900206
• dbSNP Id: rs779415925
• ExAC: 13:23915596 T / C
• gnomAD v2: 13-23915596-T-C
• gnomAD v4: 13-23341457-T-C
• MyVariant Identifiers: chr13:g.23915596T>C (hg19) ; chr13:g.23341457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341457T>C , CM000675.2:g.23341457T>C	GRCh38
NC_000013.10:g.23915596T>C , CM000675.1:g.23915596T>C	GRCh37
NC_000013.9:g.22813596T>C	NCBI36
NG_012342.1:g.97246A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12328A>G	ENSP00000508399.1:n.2185+12328A>G
ENST00000682944.1:c.2446A>G	ENSP00000507173.1:p.Ile816Val
ENST00000683210.1:c.2185+12328A>G	ENSP00000506739.1:n.2185+12328A>G
ENST00000683270.1:c.2410A>G	ENSP00000507624.1:p.Ile804Val
ENST00000683367.1:c.2177-11973A>G	ENSP00000507780.1:n.2177-11973A>G
ENST00000683489.1:c.2291+128A>G	ENSP00000508403.1:n.2291+128A>G
ENST00000683680.1:c.2318+128A>G	ENSP00000507223.1:n.2318+128A>G
ENST00000684163.1:c.2203+5354A>G	ENSP00000508262.1:n.2203+5354A>G
ENST00000684196.1:n.4543-11973A>G
ENST00000684325.1:c.2185+12328A>G	ENSP00000508121.1:n.2185+12328A>G
ENST00000684385.1:c.2220+5354A>G	ENSP00000507855.1:n.2220+5354A>G
ENST00000684497.1:c.2185+12328A>G	ENSP00000507057.1:n.2185+12328A>G
ENST00000382292.9:c.2419A>G MANE Select	ENSP00000371729.3:p.Ile807Val
ENST00000423156.2:c.2186-11973A>G	ENSP00000390925.2:n.2186-11973A>G
ENST00000455470.6:c.2419A>G	ENSP00000406565.2:p.Ile807Val
ENST00000382292.7:c.2419A>G	ENSP00000371729.3:p.Ile807Val
ENST00000382298.7:c.2419A>G	ENSP00000371735.3:p.Ile807Val
ENST00000402364.1:c.169A>G	ENSP00000385844.1:p.Ile57Val
ENST00000423156.1:c.1058-11973A>G	ENSP00000390925.1:n.1058-11973A>G
ENST00000455470.5:c.2117A>G
NM_001278055.1:c.1978A>G	NP_001264984.1:p.Ile660Val
NM_014363.5:c.2419A>G	NP_055178.3:p.Ile807Val
XM_005266338.1:c.2446A>G	XP_005266395.1:p.Ile816Val
XM_011535038.1:c.2470A>G	XP_011533340.1:p.Ile824Val
XM_011535039.1:c.2437A>G	XP_011533341.1:p.Ile813Val
XM_005266338.2:c.2446A>G	XP_005266395.1:p.Ile816Val
XM_011535039.2:c.2437A>G	XP_011533341.1:p.Ile813Val
XM_017020539.1:c.2410A>G	XP_016876028.1:p.Ile804Val
XM_024449337.1:c.2446A>G	XP_024305105.1:p.Ile816Val
NM_014363.6:c.2419A>G MANE Select	NP_055178.3:p.Ile807Val
NM_001278055.2:c.1978A>G	NP_001264984.1:p.Ile660Val