Canonical Allele Identifier: CA246653583

Gene: SACS

Linked Data

• ClinVar Variation Id: 2070503
• ClinVar RCV Id: RCV002959104
• dbSNP Id: rs998348033
• gnomAD v2: 13-23908882-T-C
• gnomAD v4: 13-23334743-T-C
• MyVariant Identifiers: chr13:g.23908882T>C (hg19) ; chr13:g.23334743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334743T>C , CM000675.2:g.23334743T>C	GRCh38
NC_000013.10:g.23908882T>C , CM000675.1:g.23908882T>C	GRCh37
NC_000013.9:g.22806882T>C	NCBI36
NG_012342.1:g.103960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19042A>G	ENSP00000508399.1:n.2185+19042A>G
ENST00000682944.1:c.9160A>G	ENSP00000507173.1:p.Ile3054Val
ENST00000683210.1:c.2185+19042A>G	ENSP00000506739.1:n.2185+19042A>G
ENST00000683270.1:c.6445+2679A>G	ENSP00000507624.1:n.6445+2679A>G
ENST00000683367.1:c.2177-5259A>G	ENSP00000507780.1:n.2177-5259A>G
ENST00000683489.1:c.2292-4791A>G	ENSP00000508403.1:n.2292-4791A>G
ENST00000683680.1:c.2319-4791A>G	ENSP00000507223.1:n.2319-4791A>G
ENST00000684163.1:c.2204-5259A>G	ENSP00000508262.1:n.2204-5259A>G
ENST00000684196.1:n.4543-5259A>G
ENST00000684325.1:c.2186-13069A>G	ENSP00000508121.1:n.2186-13069A>G
ENST00000684385.1:c.2221-5259A>G	ENSP00000507855.1:n.2221-5259A>G
ENST00000684497.1:c.2186-12099A>G	ENSP00000507057.1:n.2186-12099A>G
ENST00000382292.9:c.9133A>G MANE Select	ENSP00000371729.3:p.Ile3045Val
ENST00000423156.2:c.2186-5259A>G	ENSP00000390925.2:n.2186-5259A>G
ENST00000455470.6:c.2432-5259A>G	ENSP00000406565.2:n.2432-5259A>G
ENST00000382292.7:c.9133A>G	ENSP00000371729.3:p.Ile3045Val
ENST00000382298.7:c.9133A>G	ENSP00000371735.3:p.Ile3045Val
ENST00000402364.1:c.6883A>G	ENSP00000385844.1:p.Ile2295Val
ENST00000423156.1:c.1058-5259A>G	ENSP00000390925.1:n.1058-5259A>G
ENST00000455470.5:c.2130-5259A>G
NM_001278055.1:c.8692A>G	NP_001264984.1:p.Ile2898Val
NM_014363.5:c.9133A>G	NP_055178.3:p.Ile3045Val
XM_005266338.1:c.9160A>G	XP_005266395.1:p.Ile3054Val
XM_011535038.1:c.9184A>G	XP_011533340.1:p.Ile3062Val
XM_011535039.1:c.9151A>G	XP_011533341.1:p.Ile3051Val
XM_005266338.2:c.9160A>G	XP_005266395.1:p.Ile3054Val
XM_011535039.2:c.9151A>G	XP_011533341.1:p.Ile3051Val
XM_017020539.1:c.9124A>G	XP_016876028.1:p.Ile3042Val
XM_024449337.1:c.9160A>G	XP_024305105.1:p.Ile3054Val
NM_014363.6:c.9133A>G MANE Select	NP_055178.3:p.Ile3045Val
NM_001278055.2:c.8692A>G	NP_001264984.1:p.Ile2898Val