Canonical Allele Identifier: CA2078629085
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331050T= , CM000675.2:g.23331050T= GRCh38
NC_000013.10:g.23905189T= , CM000675.1:g.23905189T= GRCh37
NC_000013.9:g.22803189T= NCBI36
NG_012342.1:g.107653A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18935A= ENSP00000508399.1:n.2186-18935A=
ENST00000682944.1:c.12853A= ENSP00000507173.1:p.Ile4285=
ENST00000683210.1:c.2185+22735A= ENSP00000506739.1:n.2185+22735A=
ENST00000683270.1:c.6446-1566A= ENSP00000507624.1:n.6446-1566A=
ENST00000683367.1:c.2177-1566A= ENSP00000507780.1:n.2177-1566A=
ENST00000683489.1:c.2292-1098A= ENSP00000508403.1:n.2292-1098A=
ENST00000683680.1:c.2319-1098A= ENSP00000507223.1:n.2319-1098A=
ENST00000684163.1:c.2204-1566A= ENSP00000508262.1:n.2204-1566A=
ENST00000684196.1:n.4543-1566A=
ENST00000684325.1:c.2186-9376A= ENSP00000508121.1:n.2186-9376A=
ENST00000684385.1:c.2221-1566A= ENSP00000507855.1:n.2221-1566A=
ENST00000684497.1:c.2186-8406A= ENSP00000507057.1:n.2186-8406A=
ENST00000382292.9:c.12826A= MANE Select ENSP00000371729.3:p.Ile4276=
ENST00000423156.2:c.2186-1566A= ENSP00000390925.2:n.2186-1566A=
ENST00000455470.6:c.2432-1566A= ENSP00000406565.2:n.2432-1566A=
ENST00000382292.7:c.12826A= ENSP00000371729.3:p.Ile4276=
ENST00000382298.7:c.12826A= ENSP00000371735.3:p.Ile4276=
ENST00000402364.1:c.10576A= ENSP00000385844.1:p.Ile3526=
ENST00000423156.1:c.1058-1566A= ENSP00000390925.1:n.1058-1566A=
ENST00000455470.5:c.2130-1566A=
NM_001278055.1:c.12385A= NP_001264984.1:p.Ile4129=
NM_014363.5:c.12826A= NP_055178.3:p.Ile4276=
XM_005266338.1:c.12853A= XP_005266395.1:p.Ile4285=
XM_011535038.1:c.12877A= XP_011533340.1:p.Ile4293=
XM_011535039.1:c.12844A= XP_011533341.1:p.Ile4282=
XM_005266338.2:c.12853A= XP_005266395.1:p.Ile4285=
XM_011535039.2:c.12844A= XP_011533341.1:p.Ile4282=
XM_017020539.1:c.12817A= XP_016876028.1:p.Ile4273=
XM_024449337.1:c.12853A= XP_024305105.1:p.Ile4285=
NM_014363.6:c.12826A= MANE Select NP_055178.3:p.Ile4276=
NM_001278055.2:c.12385A= NP_001264984.1:p.Ile4129=