Canonical Allele Identifier: CA387519657
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 989212
ClinVar RCV Id: RCV001391624
dbSNP Id: rs771583552

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336602C>G , CM000675.2:g.23336602C>G GRCh38
NC_000013.10:g.23910741C>G , CM000675.1:g.23910741C>G GRCh37
NC_000013.9:g.22808741C>G NCBI36
NG_012342.1:g.102101G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17183G>C ENSP00000508399.1:n.2185+17183G>C
ENST00000682944.1:c.7301G>C ENSP00000507173.1:p.Arg2434Pro
ENST00000683210.1:c.2185+17183G>C ENSP00000506739.1:n.2185+17183G>C
ENST00000683270.1:c.6445+820G>C ENSP00000507624.1:n.6445+820G>C
ENST00000683367.1:c.2177-7118G>C ENSP00000507780.1:n.2177-7118G>C
ENST00000683489.1:c.2291+4983G>C ENSP00000508403.1:n.2291+4983G>C
ENST00000683680.1:c.2318+4983G>C ENSP00000507223.1:n.2318+4983G>C
ENST00000684163.1:c.2204-7118G>C ENSP00000508262.1:n.2204-7118G>C
ENST00000684196.1:n.4543-7118G>C
ENST00000684325.1:c.2186-14928G>C ENSP00000508121.1:n.2186-14928G>C
ENST00000684385.1:c.2221-7118G>C ENSP00000507855.1:n.2221-7118G>C
ENST00000684497.1:c.2186-13958G>C ENSP00000507057.1:n.2186-13958G>C
ENST00000382292.9:c.7274G>C MANE Select ENSP00000371729.3:p.Arg2425Pro
ENST00000423156.2:c.2186-7118G>C ENSP00000390925.2:n.2186-7118G>C
ENST00000455470.6:c.2431+4843G>C ENSP00000406565.2:n.2431+4843G>C
ENST00000382292.7:c.7274G>C ENSP00000371729.3:p.Arg2425Pro
ENST00000382298.7:c.7274G>C ENSP00000371735.3:p.Arg2425Pro
ENST00000402364.1:c.5024G>C ENSP00000385844.1:p.Arg1675Pro
ENST00000423156.1:c.1058-7118G>C ENSP00000390925.1:n.1058-7118G>C
ENST00000455470.5:c.2129+4843G>C
NM_001278055.1:c.6833G>C NP_001264984.1:p.Arg2278Pro
NM_014363.5:c.7274G>C NP_055178.3:p.Arg2425Pro
XM_005266338.1:c.7301G>C XP_005266395.1:p.Arg2434Pro
XM_011535038.1:c.7325G>C XP_011533340.1:p.Arg2442Pro
XM_011535039.1:c.7292G>C XP_011533341.1:p.Arg2431Pro
XM_005266338.2:c.7301G>C XP_005266395.1:p.Arg2434Pro
XM_011535039.2:c.7292G>C XP_011533341.1:p.Arg2431Pro
XM_017020539.1:c.7265G>C XP_016876028.1:p.Arg2422Pro
XM_024449337.1:c.7301G>C XP_024305105.1:p.Arg2434Pro
NM_014363.6:c.7274G>C MANE Select NP_055178.3:p.Arg2425Pro
NM_001278055.2:c.6833G>C NP_001264984.1:p.Arg2278Pro