Canonical Allele Identifier: CA2078622430
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335026A= , CM000675.2:g.23335026A= GRCh38
NC_000013.10:g.23909165A= , CM000675.1:g.23909165A= GRCh37
NC_000013.9:g.22807165A= NCBI36
NG_012342.1:g.103677T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18759T= ENSP00000508399.1:n.2185+18759T=
ENST00000682944.1:c.8877T= ENSP00000507173.1:p.His2959=
ENST00000683210.1:c.2185+18759T= ENSP00000506739.1:n.2185+18759T=
ENST00000683270.1:c.6445+2396T= ENSP00000507624.1:n.6445+2396T=
ENST00000683367.1:c.2177-5542T= ENSP00000507780.1:n.2177-5542T=
ENST00000683489.1:c.2292-5074T= ENSP00000508403.1:n.2292-5074T=
ENST00000683680.1:c.2319-5074T= ENSP00000507223.1:n.2319-5074T=
ENST00000684163.1:c.2204-5542T= ENSP00000508262.1:n.2204-5542T=
ENST00000684196.1:n.4543-5542T=
ENST00000684325.1:c.2186-13352T= ENSP00000508121.1:n.2186-13352T=
ENST00000684385.1:c.2221-5542T= ENSP00000507855.1:n.2221-5542T=
ENST00000684497.1:c.2186-12382T= ENSP00000507057.1:n.2186-12382T=
ENST00000382292.9:c.8850T= MANE Select ENSP00000371729.3:p.His2950=
ENST00000423156.2:c.2186-5542T= ENSP00000390925.2:n.2186-5542T=
ENST00000455470.6:c.2432-5542T= ENSP00000406565.2:n.2432-5542T=
ENST00000382292.7:c.8850T= ENSP00000371729.3:p.His2950=
ENST00000382298.7:c.8850T= ENSP00000371735.3:p.His2950=
ENST00000402364.1:c.6600T= ENSP00000385844.1:p.His2200=
ENST00000423156.1:c.1058-5542T= ENSP00000390925.1:n.1058-5542T=
ENST00000455470.5:c.2130-5542T=
NM_001278055.1:c.8409T= NP_001264984.1:p.His2803=
NM_014363.5:c.8850T= NP_055178.3:p.His2950=
XM_005266338.1:c.8877T= XP_005266395.1:p.His2959=
XM_011535038.1:c.8901T= XP_011533340.1:p.His2967=
XM_011535039.1:c.8868T= XP_011533341.1:p.His2956=
XM_005266338.2:c.8877T= XP_005266395.1:p.His2959=
XM_011535039.2:c.8868T= XP_011533341.1:p.His2956=
XM_017020539.1:c.8841T= XP_016876028.1:p.His2947=
XM_024449337.1:c.8877T= XP_024305105.1:p.His2959=
NM_014363.6:c.8850T= MANE Select NP_055178.3:p.His2950=
NM_001278055.2:c.8409T= NP_001264984.1:p.His2803=