Canonical Allele Identifier: CA2078628845
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330960T= , CM000675.2:g.23330960T= GRCh38
NC_000013.10:g.23905099T= , CM000675.1:g.23905099T= GRCh37
NC_000013.9:g.22803099T= NCBI36
NG_012342.1:g.107743A=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18845A= ENSP00000508399.1:n.2186-18845A=
ENST00000682944.1:c.12943A= ENSP00000507173.1:p.Ile4315=
ENST00000683210.1:c.2185+22825A= ENSP00000506739.1:n.2185+22825A=
ENST00000683270.1:c.6446-1476A= ENSP00000507624.1:n.6446-1476A=
ENST00000683367.1:c.2177-1476A= ENSP00000507780.1:n.2177-1476A=
ENST00000683489.1:c.2292-1008A= ENSP00000508403.1:n.2292-1008A=
ENST00000683680.1:c.2319-1008A= ENSP00000507223.1:n.2319-1008A=
ENST00000684163.1:c.2204-1476A= ENSP00000508262.1:n.2204-1476A=
ENST00000684196.1:n.4543-1476A=
ENST00000684325.1:c.2186-9286A= ENSP00000508121.1:n.2186-9286A=
ENST00000684385.1:c.2221-1476A= ENSP00000507855.1:n.2221-1476A=
ENST00000684497.1:c.2186-8316A= ENSP00000507057.1:n.2186-8316A=
ENST00000382292.9:c.12916A= MANE Select ENSP00000371729.3:p.Ile4306=
ENST00000423156.2:c.2186-1476A= ENSP00000390925.2:n.2186-1476A=
ENST00000455470.6:c.2432-1476A= ENSP00000406565.2:n.2432-1476A=
ENST00000382292.7:c.12916A= ENSP00000371729.3:p.Ile4306=
ENST00000382298.7:c.12916A= ENSP00000371735.3:p.Ile4306=
ENST00000402364.1:c.10666A= ENSP00000385844.1:p.Ile3556=
ENST00000423156.1:c.1058-1476A= ENSP00000390925.1:n.1058-1476A=
ENST00000455470.5:c.2130-1476A=
NM_001278055.1:c.12475A= NP_001264984.1:p.Ile4159=
NM_014363.5:c.12916A= NP_055178.3:p.Ile4306=
XM_005266338.1:c.12943A= XP_005266395.1:p.Ile4315=
XM_011535038.1:c.12967A= XP_011533340.1:p.Ile4323=
XM_011535039.1:c.12934A= XP_011533341.1:p.Ile4312=
XM_005266338.2:c.12943A= XP_005266395.1:p.Ile4315=
XM_011535039.2:c.12934A= XP_011533341.1:p.Ile4312=
XM_017020539.1:c.12907A= XP_016876028.1:p.Ile4303=
XM_024449337.1:c.12943A= XP_024305105.1:p.Ile4315=
NM_014363.6:c.12916A= MANE Select NP_055178.3:p.Ile4306=
NM_001278055.2:c.12475A= NP_001264984.1:p.Ile4159=