Canonical Allele Identifier: CA2078622212
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334940T= , CM000675.2:g.23334940T= GRCh38
NC_000013.10:g.23909079T= , CM000675.1:g.23909079T= GRCh37
NC_000013.9:g.22807079T= NCBI36
NG_012342.1:g.103763A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18845A= ENSP00000508399.1:n.2185+18845A=
ENST00000682944.1:c.8963A= ENSP00000507173.1:p.Lys2988=
ENST00000683210.1:c.2185+18845A= ENSP00000506739.1:n.2185+18845A=
ENST00000683270.1:c.6445+2482A= ENSP00000507624.1:n.6445+2482A=
ENST00000683367.1:c.2177-5456A= ENSP00000507780.1:n.2177-5456A=
ENST00000683489.1:c.2292-4988A= ENSP00000508403.1:n.2292-4988A=
ENST00000683680.1:c.2319-4988A= ENSP00000507223.1:n.2319-4988A=
ENST00000684163.1:c.2204-5456A= ENSP00000508262.1:n.2204-5456A=
ENST00000684196.1:n.4543-5456A=
ENST00000684325.1:c.2186-13266A= ENSP00000508121.1:n.2186-13266A=
ENST00000684385.1:c.2221-5456A= ENSP00000507855.1:n.2221-5456A=
ENST00000684497.1:c.2186-12296A= ENSP00000507057.1:n.2186-12296A=
ENST00000382292.9:c.8936A= MANE Select ENSP00000371729.3:p.Lys2979=
ENST00000423156.2:c.2186-5456A= ENSP00000390925.2:n.2186-5456A=
ENST00000455470.6:c.2432-5456A= ENSP00000406565.2:n.2432-5456A=
ENST00000382292.7:c.8936A= ENSP00000371729.3:p.Lys2979=
ENST00000382298.7:c.8936A= ENSP00000371735.3:p.Lys2979=
ENST00000402364.1:c.6686A= ENSP00000385844.1:p.Lys2229=
ENST00000423156.1:c.1058-5456A= ENSP00000390925.1:n.1058-5456A=
ENST00000455470.5:c.2130-5456A=
NM_001278055.1:c.8495A= NP_001264984.1:p.Lys2832=
NM_014363.5:c.8936A= NP_055178.3:p.Lys2979=
XM_005266338.1:c.8963A= XP_005266395.1:p.Lys2988=
XM_011535038.1:c.8987A= XP_011533340.1:p.Lys2996=
XM_011535039.1:c.8954A= XP_011533341.1:p.Lys2985=
XM_005266338.2:c.8963A= XP_005266395.1:p.Lys2988=
XM_011535039.2:c.8954A= XP_011533341.1:p.Lys2985=
XM_017020539.1:c.8927A= XP_016876028.1:p.Lys2976=
XM_024449337.1:c.8963A= XP_024305105.1:p.Lys2988=
NM_014363.6:c.8936A= MANE Select NP_055178.3:p.Lys2979=
NM_001278055.2:c.8495A= NP_001264984.1:p.Lys2832=