Canonical Allele Identifier: CA3200933533
Community Standard Title: NM_014363.6(SACS):c.11081G= (p.Cys3694=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332795C= , CM000675.2:g.23332795C= GRCh38
NC_000013.10:g.23906934C= , CM000675.1:g.23906934C= GRCh37
NC_000013.9:g.22804934C= NCBI36
NG_012342.1:g.105908G=

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11081G= MANE Select NP_055178.3:p.Cys3694=
ENST00000382292.9:c.11081G= MANE Select ENSP00000371729.3:p.Cys3694=
NM_001278055.1:c.10640G= NP_001264984.1:p.Cys3547=
NM_001278055.2:c.10640G= NP_001264984.1:p.Cys3547=
NM_014363.5:c.11081G= NP_055178.3:p.Cys3694=
ENST00000382292.7:c.11081G= ENSP00000371729.3:p.Cys3694=
ENST00000382298.7:c.11081G= ENSP00000371735.3:p.Cys3694=
ENST00000402364.1:c.8831G= ENSP00000385844.1:p.Cys2944=
ENST00000423156.1:c.1058-3311G= ENSP00000390925.1:n.1058-3311G=
ENST00000423156.2:c.2186-3311G= ENSP00000390925.2:n.2186-3311G=
ENST00000455470.5:c.2130-3311G=
ENST00000455470.6:c.2432-3311G= ENSP00000406565.2:n.2432-3311G=
ENST00000682775.1:c.2186-20680G= ENSP00000508399.1:n.2186-20680G=
ENST00000682944.1:c.11108G= ENSP00000507173.1:p.Cys3703=
ENST00000683210.1:c.2185+20990G= ENSP00000506739.1:n.2185+20990G=
ENST00000683270.1:c.6446-3311G= ENSP00000507624.1:n.6446-3311G=
ENST00000683367.1:c.2177-3311G= ENSP00000507780.1:n.2177-3311G=
ENST00000683489.1:c.2292-2843G= ENSP00000508403.1:n.2292-2843G=
ENST00000683680.1:c.2319-2843G= ENSP00000507223.1:n.2319-2843G=
ENST00000684163.1:c.2204-3311G= ENSP00000508262.1:n.2204-3311G=
ENST00000684196.1:n.4543-3311G=
ENST00000684325.1:c.2186-11121G= ENSP00000508121.1:n.2186-11121G=
ENST00000684385.1:c.2221-3311G= ENSP00000507855.1:n.2221-3311G=
ENST00000684497.1:c.2186-10151G= ENSP00000507057.1:n.2186-10151G=
XM_005266338.1:c.11108G= XP_005266395.1:p.Cys3703=
XM_005266338.2:c.11108G= XP_005266395.1:p.Cys3703=
XM_011535038.1:c.11132G= XP_011533340.1:p.Cys3711=
XM_011535039.1:c.11099G= XP_011533341.1:p.Cys3700=
XM_011535039.2:c.11099G= XP_011533341.1:p.Cys3700=
XM_017020539.1:c.11072G= XP_016876028.1:p.Cys3691=
XM_024449337.1:c.11108G= XP_024305105.1:p.Cys3703=