Canonical Allele Identifier: CA2078628440
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330704T= , CM000675.2:g.23330704T= GRCh38
NC_000013.10:g.23904843T= , CM000675.1:g.23904843T= GRCh37
NC_000013.9:g.22802843T= NCBI36
NG_012342.1:g.107999A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18589A= ENSP00000508399.1:n.2186-18589A=
ENST00000682944.1:c.13199A= ENSP00000507173.1:p.Lys4400=
ENST00000683210.1:c.2185+23081A= ENSP00000506739.1:n.2185+23081A=
ENST00000683270.1:c.6446-1220A= ENSP00000507624.1:n.6446-1220A=
ENST00000683367.1:c.2177-1220A= ENSP00000507780.1:n.2177-1220A=
ENST00000683489.1:c.2292-752A= ENSP00000508403.1:n.2292-752A=
ENST00000683680.1:c.2319-752A= ENSP00000507223.1:n.2319-752A=
ENST00000684163.1:c.2204-1220A= ENSP00000508262.1:n.2204-1220A=
ENST00000684196.1:n.4543-1220A=
ENST00000684325.1:c.2186-9030A= ENSP00000508121.1:n.2186-9030A=
ENST00000684385.1:c.2221-1220A= ENSP00000507855.1:n.2221-1220A=
ENST00000684497.1:c.2186-8060A= ENSP00000507057.1:n.2186-8060A=
ENST00000382292.9:c.13172A= MANE Select ENSP00000371729.3:p.Lys4391=
ENST00000423156.2:c.2186-1220A= ENSP00000390925.2:n.2186-1220A=
ENST00000455470.6:c.2432-1220A= ENSP00000406565.2:n.2432-1220A=
ENST00000382292.7:c.13172A= ENSP00000371729.3:p.Lys4391=
ENST00000382298.7:c.13172A= ENSP00000371735.3:p.Lys4391=
ENST00000402364.1:c.10922A= ENSP00000385844.1:p.Lys3641=
ENST00000423156.1:c.1058-1220A= ENSP00000390925.1:n.1058-1220A=
ENST00000455470.5:c.2130-1220A=
NM_001278055.1:c.12731A= NP_001264984.1:p.Lys4244=
NM_014363.5:c.13172A= NP_055178.3:p.Lys4391=
XM_005266338.1:c.13199A= XP_005266395.1:p.Lys4400=
XM_011535038.1:c.13223A= XP_011533340.1:p.Lys4408=
XM_011535039.1:c.13190A= XP_011533341.1:p.Lys4397=
XM_005266338.2:c.13199A= XP_005266395.1:p.Lys4400=
XM_011535039.2:c.13190A= XP_011533341.1:p.Lys4397=
XM_017020539.1:c.13163A= XP_016876028.1:p.Lys4388=
XM_024449337.1:c.13199A= XP_024305105.1:p.Lys4400=
NM_014363.6:c.13172A= MANE Select NP_055178.3:p.Lys4391=
NM_001278055.2:c.12731A= NP_001264984.1:p.Lys4244=