Canonical Allele Identifier: CA6911227
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448208
dbSNP Id: rs140678034

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338293C>G , CM000675.2:g.23338293C>G GRCh38
NC_000013.10:g.23912432C>G , CM000675.1:g.23912432C>G GRCh37
NC_000013.9:g.22810432C>G NCBI36
NG_012342.1:g.100410G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15492G>C ENSP00000508399.1:n.2185+15492G>C
ENST00000682944.1:c.5610G>C ENSP00000507173.1:p.Trp1870Cys
ENST00000683210.1:c.2185+15492G>C ENSP00000506739.1:n.2185+15492G>C
ENST00000683270.1:c.5574G>C ENSP00000507624.1:p.Trp1858Cys
ENST00000683367.1:c.2177-8809G>C ENSP00000507780.1:n.2177-8809G>C
ENST00000683489.1:c.2291+3292G>C ENSP00000508403.1:n.2291+3292G>C
ENST00000683680.1:c.2318+3292G>C ENSP00000507223.1:n.2318+3292G>C
ENST00000684163.1:c.2203+8518G>C ENSP00000508262.1:n.2203+8518G>C
ENST00000684196.1:n.4543-8809G>C
ENST00000684325.1:c.2185+15492G>C ENSP00000508121.1:n.2185+15492G>C
ENST00000684385.1:c.2220+8518G>C ENSP00000507855.1:n.2220+8518G>C
ENST00000684497.1:c.2185+15492G>C ENSP00000507057.1:n.2185+15492G>C
ENST00000382292.9:c.5583G>C MANE Select ENSP00000371729.3:p.Trp1861Cys
ENST00000423156.2:c.2186-8809G>C ENSP00000390925.2:n.2186-8809G>C
ENST00000455470.6:c.2431+3152G>C ENSP00000406565.2:n.2431+3152G>C
ENST00000382292.7:c.5583G>C ENSP00000371729.3:p.Trp1861Cys
ENST00000382298.7:c.5583G>C ENSP00000371735.3:p.Trp1861Cys
ENST00000402364.1:c.3333G>C ENSP00000385844.1:p.Trp1111Cys
ENST00000423156.1:c.1058-8809G>C ENSP00000390925.1:n.1058-8809G>C
ENST00000455470.5:c.2129+3152G>C
NM_001278055.1:c.5142G>C NP_001264984.1:p.Trp1714Cys
NM_014363.5:c.5583G>C NP_055178.3:p.Trp1861Cys
XM_005266338.1:c.5610G>C XP_005266395.1:p.Trp1870Cys
XM_011535038.1:c.5634G>C XP_011533340.1:p.Trp1878Cys
XM_011535039.1:c.5601G>C XP_011533341.1:p.Trp1867Cys
XM_005266338.2:c.5610G>C XP_005266395.1:p.Trp1870Cys
XM_011535039.2:c.5601G>C XP_011533341.1:p.Trp1867Cys
XM_017020539.1:c.5574G>C XP_016876028.1:p.Trp1858Cys
XM_024449337.1:c.5610G>C XP_024305105.1:p.Trp1870Cys
NM_014363.6:c.5583G>C MANE Select NP_055178.3:p.Trp1861Cys
NM_001278055.2:c.5142G>C NP_001264984.1:p.Trp1714Cys