Canonical Allele Identifier: CA2078634003
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334097T= , CM000675.2:g.23334097T= GRCh38
NC_000013.10:g.23908236T= , CM000675.1:g.23908236T= GRCh37
NC_000013.9:g.22806236T= NCBI36
NG_012342.1:g.104606A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19688A= ENSP00000508399.1:n.2185+19688A=
ENST00000682944.1:c.9806A= ENSP00000507173.1:p.Asp3269=
ENST00000683210.1:c.2185+19688A= ENSP00000506739.1:n.2185+19688A=
ENST00000683270.1:c.6445+3325A= ENSP00000507624.1:n.6445+3325A=
ENST00000683367.1:c.2177-4613A= ENSP00000507780.1:n.2177-4613A=
ENST00000683489.1:c.2292-4145A= ENSP00000508403.1:n.2292-4145A=
ENST00000683680.1:c.2319-4145A= ENSP00000507223.1:n.2319-4145A=
ENST00000684163.1:c.2204-4613A= ENSP00000508262.1:n.2204-4613A=
ENST00000684196.1:n.4543-4613A=
ENST00000684325.1:c.2186-12423A= ENSP00000508121.1:n.2186-12423A=
ENST00000684385.1:c.2221-4613A= ENSP00000507855.1:n.2221-4613A=
ENST00000684497.1:c.2186-11453A= ENSP00000507057.1:n.2186-11453A=
ENST00000382292.9:c.9779A= MANE Select ENSP00000371729.3:p.Asp3260=
ENST00000423156.2:c.2186-4613A= ENSP00000390925.2:n.2186-4613A=
ENST00000455470.6:c.2432-4613A= ENSP00000406565.2:n.2432-4613A=
ENST00000382292.7:c.9779A= ENSP00000371729.3:p.Asp3260=
ENST00000382298.7:c.9779A= ENSP00000371735.3:p.Asp3260=
ENST00000402364.1:c.7529A= ENSP00000385844.1:p.Asp2510=
ENST00000423156.1:c.1058-4613A= ENSP00000390925.1:n.1058-4613A=
ENST00000455470.5:c.2130-4613A=
NM_001278055.1:c.9338A= NP_001264984.1:p.Asp3113=
NM_014363.5:c.9779A= NP_055178.3:p.Asp3260=
XM_005266338.1:c.9806A= XP_005266395.1:p.Asp3269=
XM_011535038.1:c.9830A= XP_011533340.1:p.Asp3277=
XM_011535039.1:c.9797A= XP_011533341.1:p.Asp3266=
XM_005266338.2:c.9806A= XP_005266395.1:p.Asp3269=
XM_011535039.2:c.9797A= XP_011533341.1:p.Asp3266=
XM_017020539.1:c.9770A= XP_016876028.1:p.Asp3257=
XM_024449337.1:c.9806A= XP_024305105.1:p.Asp3269=
NM_014363.6:c.9779A= MANE Select NP_055178.3:p.Asp3260=
NM_001278055.2:c.9338A= NP_001264984.1:p.Asp3113=