Canonical Allele Identifier: CA2078641981
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340232A= , CM000675.2:g.23340232A= GRCh38
NC_000013.10:g.23914371A= , CM000675.1:g.23914371A= GRCh37
NC_000013.9:g.22812371A= NCBI36
NG_012342.1:g.98471T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+13553T= ENSP00000508399.1:n.2185+13553T=
ENST00000682944.1:c.3671T= ENSP00000507173.1:p.Ile1224=
ENST00000683210.1:c.2185+13553T= ENSP00000506739.1:n.2185+13553T=
ENST00000683270.1:c.3635T= ENSP00000507624.1:p.Ile1212=
ENST00000683367.1:c.2177-10748T= ENSP00000507780.1:n.2177-10748T=
ENST00000683489.1:c.2291+1353T= ENSP00000508403.1:n.2291+1353T=
ENST00000683680.1:c.2318+1353T= ENSP00000507223.1:n.2318+1353T=
ENST00000684163.1:c.2203+6579T= ENSP00000508262.1:n.2203+6579T=
ENST00000684196.1:n.4543-10748T=
ENST00000684325.1:c.2185+13553T= ENSP00000508121.1:n.2185+13553T=
ENST00000684385.1:c.2220+6579T= ENSP00000507855.1:n.2220+6579T=
ENST00000684497.1:c.2185+13553T= ENSP00000507057.1:n.2185+13553T=
ENST00000382292.9:c.3644T= MANE Select ENSP00000371729.3:p.Ile1215=
ENST00000423156.2:c.2186-10748T= ENSP00000390925.2:n.2186-10748T=
ENST00000455470.6:c.2431+1213T= ENSP00000406565.2:n.2431+1213T=
ENST00000382292.7:c.3644T= ENSP00000371729.3:p.Ile1215=
ENST00000382298.7:c.3644T= ENSP00000371735.3:p.Ile1215=
ENST00000402364.1:c.1394T= ENSP00000385844.1:p.Ile465=
ENST00000423156.1:c.1058-10748T= ENSP00000390925.1:n.1058-10748T=
ENST00000455470.5:c.2129+1213T=
NM_001278055.1:c.3203T= NP_001264984.1:p.Ile1068=
NM_014363.5:c.3644T= NP_055178.3:p.Ile1215=
XM_005266338.1:c.3671T= XP_005266395.1:p.Ile1224=
XM_011535038.1:c.3695T= XP_011533340.1:p.Ile1232=
XM_011535039.1:c.3662T= XP_011533341.1:p.Ile1221=
XM_005266338.2:c.3671T= XP_005266395.1:p.Ile1224=
XM_011535039.2:c.3662T= XP_011533341.1:p.Ile1221=
XM_017020539.1:c.3635T= XP_016876028.1:p.Ile1212=
XM_024449337.1:c.3671T= XP_024305105.1:p.Ile1224=
NM_014363.6:c.3644T= MANE Select NP_055178.3:p.Ile1215=
NM_001278055.2:c.3203T= NP_001264984.1:p.Ile1068=