Canonical Allele Identifier: CA2078630938
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339162T= , CM000675.2:g.23339162T= GRCh38
NC_000013.10:g.23913301T= , CM000675.1:g.23913301T= GRCh37
NC_000013.9:g.22811301T= NCBI36
NG_012342.1:g.99541A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+14623A= ENSP00000508399.1:n.2185+14623A=
ENST00000682944.1:c.4741A= ENSP00000507173.1:p.Ile1581=
ENST00000683210.1:c.2185+14623A= ENSP00000506739.1:n.2185+14623A=
ENST00000683270.1:c.4705A= ENSP00000507624.1:p.Ile1569=
ENST00000683367.1:c.2177-9678A= ENSP00000507780.1:n.2177-9678A=
ENST00000683489.1:c.2291+2423A= ENSP00000508403.1:n.2291+2423A=
ENST00000683680.1:c.2318+2423A= ENSP00000507223.1:n.2318+2423A=
ENST00000684163.1:c.2203+7649A= ENSP00000508262.1:n.2203+7649A=
ENST00000684196.1:n.4543-9678A=
ENST00000684325.1:c.2185+14623A= ENSP00000508121.1:n.2185+14623A=
ENST00000684385.1:c.2220+7649A= ENSP00000507855.1:n.2220+7649A=
ENST00000684497.1:c.2185+14623A= ENSP00000507057.1:n.2185+14623A=
ENST00000382292.9:c.4714A= MANE Select ENSP00000371729.3:p.Ile1572=
ENST00000423156.2:c.2186-9678A= ENSP00000390925.2:n.2186-9678A=
ENST00000455470.6:c.2431+2283A= ENSP00000406565.2:n.2431+2283A=
ENST00000382292.7:c.4714A= ENSP00000371729.3:p.Ile1572=
ENST00000382298.7:c.4714A= ENSP00000371735.3:p.Ile1572=
ENST00000402364.1:c.2464A= ENSP00000385844.1:p.Ile822=
ENST00000423156.1:c.1058-9678A= ENSP00000390925.1:n.1058-9678A=
ENST00000455470.5:c.2129+2283A=
NM_001278055.1:c.4273A= NP_001264984.1:p.Ile1425=
NM_014363.5:c.4714A= NP_055178.3:p.Ile1572=
XM_005266338.1:c.4741A= XP_005266395.1:p.Ile1581=
XM_011535038.1:c.4765A= XP_011533340.1:p.Ile1589=
XM_011535039.1:c.4732A= XP_011533341.1:p.Ile1578=
XM_005266338.2:c.4741A= XP_005266395.1:p.Ile1581=
XM_011535039.2:c.4732A= XP_011533341.1:p.Ile1578=
XM_017020539.1:c.4705A= XP_016876028.1:p.Ile1569=
XM_024449337.1:c.4741A= XP_024305105.1:p.Ile1581=
NM_014363.6:c.4714A= MANE Select NP_055178.3:p.Ile1572=
NM_001278055.2:c.4273A= NP_001264984.1:p.Ile1425=