Canonical Allele Identifier: CA387532352
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1878731
ClinVar RCV Id: RCV002511232

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339737G>C , CM000675.2:g.23339737G>C GRCh38
NC_000013.10:g.23913876G>C , CM000675.1:g.23913876G>C GRCh37
NC_000013.9:g.22811876G>C NCBI36
NG_012342.1:g.98966C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14048C>G ENSP00000508399.1:n.2185+14048C>G
ENST00000682944.1:c.4166C>G ENSP00000507173.1:p.Pro1389Arg
ENST00000683210.1:c.2185+14048C>G ENSP00000506739.1:n.2185+14048C>G
ENST00000683270.1:c.4130C>G ENSP00000507624.1:p.Pro1377Arg
ENST00000683367.1:c.2177-10253C>G ENSP00000507780.1:n.2177-10253C>G
ENST00000683489.1:c.2291+1848C>G ENSP00000508403.1:n.2291+1848C>G
ENST00000683680.1:c.2318+1848C>G ENSP00000507223.1:n.2318+1848C>G
ENST00000684163.1:c.2203+7074C>G ENSP00000508262.1:n.2203+7074C>G
ENST00000684196.1:n.4543-10253C>G
ENST00000684325.1:c.2185+14048C>G ENSP00000508121.1:n.2185+14048C>G
ENST00000684385.1:c.2220+7074C>G ENSP00000507855.1:n.2220+7074C>G
ENST00000684497.1:c.2185+14048C>G ENSP00000507057.1:n.2185+14048C>G
ENST00000382292.9:c.4139C>G MANE Select ENSP00000371729.3:p.Pro1380Arg
ENST00000423156.2:c.2186-10253C>G ENSP00000390925.2:n.2186-10253C>G
ENST00000455470.6:c.2431+1708C>G ENSP00000406565.2:n.2431+1708C>G
ENST00000382292.7:c.4139C>G ENSP00000371729.3:p.Pro1380Arg
ENST00000382298.7:c.4139C>G ENSP00000371735.3:p.Pro1380Arg
ENST00000402364.1:c.1889C>G ENSP00000385844.1:p.Pro630Arg
ENST00000423156.1:c.1058-10253C>G ENSP00000390925.1:n.1058-10253C>G
ENST00000455470.5:c.2129+1708C>G
NM_001278055.1:c.3698C>G NP_001264984.1:p.Pro1233Arg
NM_014363.5:c.4139C>G NP_055178.3:p.Pro1380Arg
XM_005266338.1:c.4166C>G XP_005266395.1:p.Pro1389Arg
XM_011535038.1:c.4190C>G XP_011533340.1:p.Pro1397Arg
XM_011535039.1:c.4157C>G XP_011533341.1:p.Pro1386Arg
XM_005266338.2:c.4166C>G XP_005266395.1:p.Pro1389Arg
XM_011535039.2:c.4157C>G XP_011533341.1:p.Pro1386Arg
XM_017020539.1:c.4130C>G XP_016876028.1:p.Pro1377Arg
XM_024449337.1:c.4166C>G XP_024305105.1:p.Pro1389Arg
NM_014363.6:c.4139C>G MANE Select NP_055178.3:p.Pro1380Arg
NM_001278055.2:c.3698C>G NP_001264984.1:p.Pro1233Arg