Canonical Allele Identifier: CA2078621269
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334450A= , CM000675.2:g.23334450A= GRCh38
NC_000013.10:g.23908589A= , CM000675.1:g.23908589A= GRCh37
NC_000013.9:g.22806589A= NCBI36
NG_012342.1:g.104253T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19335T= ENSP00000508399.1:n.2185+19335T=
ENST00000682944.1:c.9453T= ENSP00000507173.1:p.Asp3151=
ENST00000683210.1:c.2185+19335T= ENSP00000506739.1:n.2185+19335T=
ENST00000683270.1:c.6445+2972T= ENSP00000507624.1:n.6445+2972T=
ENST00000683367.1:c.2177-4966T= ENSP00000507780.1:n.2177-4966T=
ENST00000683489.1:c.2292-4498T= ENSP00000508403.1:n.2292-4498T=
ENST00000683680.1:c.2319-4498T= ENSP00000507223.1:n.2319-4498T=
ENST00000684163.1:c.2204-4966T= ENSP00000508262.1:n.2204-4966T=
ENST00000684196.1:n.4543-4966T=
ENST00000684325.1:c.2186-12776T= ENSP00000508121.1:n.2186-12776T=
ENST00000684385.1:c.2221-4966T= ENSP00000507855.1:n.2221-4966T=
ENST00000684497.1:c.2186-11806T= ENSP00000507057.1:n.2186-11806T=
ENST00000382292.9:c.9426T= MANE Select ENSP00000371729.3:p.Asp3142=
ENST00000423156.2:c.2186-4966T= ENSP00000390925.2:n.2186-4966T=
ENST00000455470.6:c.2432-4966T= ENSP00000406565.2:n.2432-4966T=
ENST00000382292.7:c.9426T= ENSP00000371729.3:p.Asp3142=
ENST00000382298.7:c.9426T= ENSP00000371735.3:p.Asp3142=
ENST00000402364.1:c.7176T= ENSP00000385844.1:p.Asp2392=
ENST00000423156.1:c.1058-4966T= ENSP00000390925.1:n.1058-4966T=
ENST00000455470.5:c.2130-4966T=
NM_001278055.1:c.8985T= NP_001264984.1:p.Asp2995=
NM_014363.5:c.9426T= NP_055178.3:p.Asp3142=
XM_005266338.1:c.9453T= XP_005266395.1:p.Asp3151=
XM_011535038.1:c.9477T= XP_011533340.1:p.Asp3159=
XM_011535039.1:c.9444T= XP_011533341.1:p.Asp3148=
XM_005266338.2:c.9453T= XP_005266395.1:p.Asp3151=
XM_011535039.2:c.9444T= XP_011533341.1:p.Asp3148=
XM_017020539.1:c.9417T= XP_016876028.1:p.Asp3139=
XM_024449337.1:c.9453T= XP_024305105.1:p.Asp3151=
NM_014363.6:c.9426T= MANE Select NP_055178.3:p.Asp3142=
NM_001278055.2:c.8985T= NP_001264984.1:p.Asp2995=