Canonical Allele Identifier: CA2078627378
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337331C= , CM000675.2:g.23337331C= GRCh38
NC_000013.10:g.23911470C= , CM000675.1:g.23911470C= GRCh37
NC_000013.9:g.22809470C= NCBI36
NG_012342.1:g.101372G=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16454G= ENSP00000508399.1:n.2185+16454G=
ENST00000682944.1:c.6572G= ENSP00000507173.1:p.Cys2191=
ENST00000683210.1:c.2185+16454G= ENSP00000506739.1:n.2185+16454G=
ENST00000683270.1:c.6445+91G= ENSP00000507624.1:n.6445+91G=
ENST00000683367.1:c.2177-7847G= ENSP00000507780.1:n.2177-7847G=
ENST00000683489.1:c.2291+4254G= ENSP00000508403.1:n.2291+4254G=
ENST00000683680.1:c.2318+4254G= ENSP00000507223.1:n.2318+4254G=
ENST00000684163.1:c.2204-7847G= ENSP00000508262.1:n.2204-7847G=
ENST00000684196.1:n.4543-7847G=
ENST00000684325.1:c.2186-15657G= ENSP00000508121.1:n.2186-15657G=
ENST00000684385.1:c.2221-7847G= ENSP00000507855.1:n.2221-7847G=
ENST00000684497.1:c.2186-14687G= ENSP00000507057.1:n.2186-14687G=
ENST00000382292.9:c.6545G= MANE Select ENSP00000371729.3:p.Cys2182=
ENST00000423156.2:c.2186-7847G= ENSP00000390925.2:n.2186-7847G=
ENST00000455470.6:c.2431+4114G= ENSP00000406565.2:n.2431+4114G=
ENST00000382292.7:c.6545G= ENSP00000371729.3:p.Cys2182=
ENST00000382298.7:c.6545G= ENSP00000371735.3:p.Cys2182=
ENST00000402364.1:c.4295G= ENSP00000385844.1:p.Cys1432=
ENST00000423156.1:c.1058-7847G= ENSP00000390925.1:n.1058-7847G=
ENST00000455470.5:c.2129+4114G=
NM_001278055.1:c.6104G= NP_001264984.1:p.Cys2035=
NM_014363.5:c.6545G= NP_055178.3:p.Cys2182=
XM_005266338.1:c.6572G= XP_005266395.1:p.Cys2191=
XM_011535038.1:c.6596G= XP_011533340.1:p.Cys2199=
XM_011535039.1:c.6563G= XP_011533341.1:p.Cys2188=
XM_005266338.2:c.6572G= XP_005266395.1:p.Cys2191=
XM_011535039.2:c.6563G= XP_011533341.1:p.Cys2188=
XM_017020539.1:c.6536G= XP_016876028.1:p.Cys2179=
XM_024449337.1:c.6572G= XP_024305105.1:p.Cys2191=
NM_014363.6:c.6545G= MANE Select NP_055178.3:p.Cys2182=
NM_001278055.2:c.6104G= NP_001264984.1:p.Cys2035=