Canonical Allele Identifier: CA6911427
Community Standard Title: NM_014363.6(SACS):c.4145A>G (p.His1382Arg)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339731T>C , CM000675.2:g.23339731T>C GRCh38
NC_000013.10:g.23913870T>C , CM000675.1:g.23913870T>C GRCh37
NC_000013.9:g.22811870T>C NCBI36
NG_012342.1:g.98972A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.4145A>G MANE Select NP_055178.3:p.His1382Arg
ENST00000382292.9:c.4145A>G MANE Select ENSP00000371729.3:p.His1382Arg
NM_001278055.1:c.3704A>G NP_001264984.1:p.His1235Arg
NM_001278055.2:c.3704A>G NP_001264984.1:p.His1235Arg
NM_014363.5:c.4145A>G NP_055178.3:p.His1382Arg
ENST00000382292.7:c.4145A>G ENSP00000371729.3:p.His1382Arg
ENST00000382298.7:c.4145A>G ENSP00000371735.3:p.His1382Arg
ENST00000402364.1:c.1895A>G ENSP00000385844.1:p.His632Arg
ENST00000423156.1:c.1058-10247A>G ENSP00000390925.1:n.1058-10247A>G
ENST00000423156.2:c.2186-10247A>G ENSP00000390925.2:n.2186-10247A>G
ENST00000455470.5:c.2129+1714A>G
ENST00000455470.6:c.2431+1714A>G ENSP00000406565.2:n.2431+1714A>G
ENST00000682775.1:c.2185+14054A>G ENSP00000508399.1:n.2185+14054A>G
ENST00000682944.1:c.4172A>G ENSP00000507173.1:p.His1391Arg
ENST00000683210.1:c.2185+14054A>G ENSP00000506739.1:n.2185+14054A>G
ENST00000683270.1:c.4136A>G ENSP00000507624.1:p.His1379Arg
ENST00000683367.1:c.2177-10247A>G ENSP00000507780.1:n.2177-10247A>G
ENST00000683489.1:c.2291+1854A>G ENSP00000508403.1:n.2291+1854A>G
ENST00000683680.1:c.2318+1854A>G ENSP00000507223.1:n.2318+1854A>G
ENST00000684163.1:c.2203+7080A>G ENSP00000508262.1:n.2203+7080A>G
ENST00000684196.1:n.4543-10247A>G
ENST00000684325.1:c.2185+14054A>G ENSP00000508121.1:n.2185+14054A>G
ENST00000684385.1:c.2220+7080A>G ENSP00000507855.1:n.2220+7080A>G
ENST00000684497.1:c.2185+14054A>G ENSP00000507057.1:n.2185+14054A>G
XM_005266338.1:c.4172A>G XP_005266395.1:p.His1391Arg
XM_005266338.2:c.4172A>G XP_005266395.1:p.His1391Arg
XM_011535038.1:c.4196A>G XP_011533340.1:p.His1399Arg
XM_011535039.1:c.4163A>G XP_011533341.1:p.His1388Arg
XM_011535039.2:c.4163A>G XP_011533341.1:p.His1388Arg
XM_017020539.1:c.4136A>G XP_016876028.1:p.His1379Arg
XM_024449337.1:c.4172A>G XP_024305105.1:p.His1391Arg