Canonical Allele Identifier: CA387519782
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2140592
ClinVar RCV Id: RCV003056529
dbSNP Id: rs1423208260

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336657T>C , CM000675.2:g.23336657T>C GRCh38
NC_000013.10:g.23910796T>C , CM000675.1:g.23910796T>C GRCh37
NC_000013.9:g.22808796T>C NCBI36
NG_012342.1:g.102046A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17128A>G ENSP00000508399.1:n.2185+17128A>G
ENST00000682944.1:c.7246A>G ENSP00000507173.1:p.Ile2416Val
ENST00000683210.1:c.2185+17128A>G ENSP00000506739.1:n.2185+17128A>G
ENST00000683270.1:c.6445+765A>G ENSP00000507624.1:n.6445+765A>G
ENST00000683367.1:c.2177-7173A>G ENSP00000507780.1:n.2177-7173A>G
ENST00000683489.1:c.2291+4928A>G ENSP00000508403.1:n.2291+4928A>G
ENST00000683680.1:c.2318+4928A>G ENSP00000507223.1:n.2318+4928A>G
ENST00000684163.1:c.2204-7173A>G ENSP00000508262.1:n.2204-7173A>G
ENST00000684196.1:n.4543-7173A>G
ENST00000684325.1:c.2186-14983A>G ENSP00000508121.1:n.2186-14983A>G
ENST00000684385.1:c.2221-7173A>G ENSP00000507855.1:n.2221-7173A>G
ENST00000684497.1:c.2186-14013A>G ENSP00000507057.1:n.2186-14013A>G
ENST00000382292.9:c.7219A>G MANE Select ENSP00000371729.3:p.Ile2407Val
ENST00000423156.2:c.2186-7173A>G ENSP00000390925.2:n.2186-7173A>G
ENST00000455470.6:c.2431+4788A>G ENSP00000406565.2:n.2431+4788A>G
ENST00000382292.7:c.7219A>G ENSP00000371729.3:p.Ile2407Val
ENST00000382298.7:c.7219A>G ENSP00000371735.3:p.Ile2407Val
ENST00000402364.1:c.4969A>G ENSP00000385844.1:p.Ile1657Val
ENST00000423156.1:c.1058-7173A>G ENSP00000390925.1:n.1058-7173A>G
ENST00000455470.5:c.2129+4788A>G
NM_001278055.1:c.6778A>G NP_001264984.1:p.Ile2260Val
NM_014363.5:c.7219A>G NP_055178.3:p.Ile2407Val
XM_005266338.1:c.7246A>G XP_005266395.1:p.Ile2416Val
XM_011535038.1:c.7270A>G XP_011533340.1:p.Ile2424Val
XM_011535039.1:c.7237A>G XP_011533341.1:p.Ile2413Val
XM_005266338.2:c.7246A>G XP_005266395.1:p.Ile2416Val
XM_011535039.2:c.7237A>G XP_011533341.1:p.Ile2413Val
XM_017020539.1:c.7210A>G XP_016876028.1:p.Ile2404Val
XM_024449337.1:c.7246A>G XP_024305105.1:p.Ile2416Val
NM_014363.6:c.7219A>G MANE Select NP_055178.3:p.Ile2407Val
NM_001278055.2:c.6778A>G NP_001264984.1:p.Ile2260Val