Canonical Allele Identifier: CA6910293
Community Standard Title: NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332513C>T , CM000675.2:g.23332513C>T GRCh38
NC_000013.10:g.23906652C>T , CM000675.1:g.23906652C>T GRCh37
NC_000013.9:g.22804652C>T NCBI36
NG_012342.1:g.106190G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11363G>A MANE Select NP_055178.3:p.Arg3788His
ENST00000382292.9:c.11363G>A MANE Select ENSP00000371729.3:p.Arg3788His
NM_001278055.1:c.10922G>A NP_001264984.1:p.Arg3641His
NM_001278055.2:c.10922G>A NP_001264984.1:p.Arg3641His
NM_014363.5:c.11363G>A NP_055178.3:p.Arg3788His
ENST00000382292.7:c.11363G>A ENSP00000371729.3:p.Arg3788His
ENST00000382298.7:c.11363G>A ENSP00000371735.3:p.Arg3788His
ENST00000402364.1:c.9113G>A ENSP00000385844.1:p.Arg3038His
ENST00000423156.1:c.1058-3029G>A ENSP00000390925.1:n.1058-3029G>A
ENST00000423156.2:c.2186-3029G>A ENSP00000390925.2:n.2186-3029G>A
ENST00000455470.5:c.2130-3029G>A
ENST00000455470.6:c.2432-3029G>A ENSP00000406565.2:n.2432-3029G>A
ENST00000682775.1:c.2186-20398G>A ENSP00000508399.1:n.2186-20398G>A
ENST00000682944.1:c.11390G>A ENSP00000507173.1:p.Arg3797His
ENST00000683210.1:c.2185+21272G>A ENSP00000506739.1:n.2185+21272G>A
ENST00000683270.1:c.6446-3029G>A ENSP00000507624.1:n.6446-3029G>A
ENST00000683367.1:c.2177-3029G>A ENSP00000507780.1:n.2177-3029G>A
ENST00000683489.1:c.2292-2561G>A ENSP00000508403.1:n.2292-2561G>A
ENST00000683680.1:c.2319-2561G>A ENSP00000507223.1:n.2319-2561G>A
ENST00000684163.1:c.2204-3029G>A ENSP00000508262.1:n.2204-3029G>A
ENST00000684196.1:n.4543-3029G>A
ENST00000684325.1:c.2186-10839G>A ENSP00000508121.1:n.2186-10839G>A
ENST00000684385.1:c.2221-3029G>A ENSP00000507855.1:n.2221-3029G>A
ENST00000684497.1:c.2186-9869G>A ENSP00000507057.1:n.2186-9869G>A
XM_005266338.1:c.11390G>A XP_005266395.1:p.Arg3797His
XM_005266338.2:c.11390G>A XP_005266395.1:p.Arg3797His
XM_011535038.1:c.11414G>A XP_011533340.1:p.Arg3805His
XM_011535039.1:c.11381G>A XP_011533341.1:p.Arg3794His
XM_011535039.2:c.11381G>A XP_011533341.1:p.Arg3794His
XM_017020539.1:c.11354G>A XP_016876028.1:p.Arg3785His
XM_024449337.1:c.11390G>A XP_024305105.1:p.Arg3797His