Canonical Allele Identifier: CA2078621804
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334708A= , CM000675.2:g.23334708A= GRCh38
NC_000013.10:g.23908847A= , CM000675.1:g.23908847A= GRCh37
NC_000013.9:g.22806847A= NCBI36
NG_012342.1:g.103995T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19077T= ENSP00000508399.1:n.2185+19077T=
ENST00000682944.1:c.9195T= ENSP00000507173.1:p.Tyr3065=
ENST00000683210.1:c.2185+19077T= ENSP00000506739.1:n.2185+19077T=
ENST00000683270.1:c.6445+2714T= ENSP00000507624.1:n.6445+2714T=
ENST00000683367.1:c.2177-5224T= ENSP00000507780.1:n.2177-5224T=
ENST00000683489.1:c.2292-4756T= ENSP00000508403.1:n.2292-4756T=
ENST00000683680.1:c.2319-4756T= ENSP00000507223.1:n.2319-4756T=
ENST00000684163.1:c.2204-5224T= ENSP00000508262.1:n.2204-5224T=
ENST00000684196.1:n.4543-5224T=
ENST00000684325.1:c.2186-13034T= ENSP00000508121.1:n.2186-13034T=
ENST00000684385.1:c.2221-5224T= ENSP00000507855.1:n.2221-5224T=
ENST00000684497.1:c.2186-12064T= ENSP00000507057.1:n.2186-12064T=
ENST00000382292.9:c.9168T= MANE Select ENSP00000371729.3:p.Tyr3056=
ENST00000423156.2:c.2186-5224T= ENSP00000390925.2:n.2186-5224T=
ENST00000455470.6:c.2432-5224T= ENSP00000406565.2:n.2432-5224T=
ENST00000382292.7:c.9168T= ENSP00000371729.3:p.Tyr3056=
ENST00000382298.7:c.9168T= ENSP00000371735.3:p.Tyr3056=
ENST00000402364.1:c.6918T= ENSP00000385844.1:p.Tyr2306=
ENST00000423156.1:c.1058-5224T= ENSP00000390925.1:n.1058-5224T=
ENST00000455470.5:c.2130-5224T=
NM_001278055.1:c.8727T= NP_001264984.1:p.Tyr2909=
NM_014363.5:c.9168T= NP_055178.3:p.Tyr3056=
XM_005266338.1:c.9195T= XP_005266395.1:p.Tyr3065=
XM_011535038.1:c.9219T= XP_011533340.1:p.Tyr3073=
XM_011535039.1:c.9186T= XP_011533341.1:p.Tyr3062=
XM_005266338.2:c.9195T= XP_005266395.1:p.Tyr3065=
XM_011535039.2:c.9186T= XP_011533341.1:p.Tyr3062=
XM_017020539.1:c.9159T= XP_016876028.1:p.Tyr3053=
XM_024449337.1:c.9195T= XP_024305105.1:p.Tyr3065=
NM_014363.6:c.9168T= MANE Select NP_055178.3:p.Tyr3056=
NM_001278055.2:c.8727T= NP_001264984.1:p.Tyr2909=