Canonical Allele Identifier: CA2078628864
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330968A= , CM000675.2:g.23330968A= GRCh38
NC_000013.10:g.23905107A= , CM000675.1:g.23905107A= GRCh37
NC_000013.9:g.22803107A= NCBI36
NG_012342.1:g.107735T=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18853T= ENSP00000508399.1:n.2186-18853T=
ENST00000682944.1:c.12935T= ENSP00000507173.1:p.Leu4312=
ENST00000683210.1:c.2185+22817T= ENSP00000506739.1:n.2185+22817T=
ENST00000683270.1:c.6446-1484T= ENSP00000507624.1:n.6446-1484T=
ENST00000683367.1:c.2177-1484T= ENSP00000507780.1:n.2177-1484T=
ENST00000683489.1:c.2292-1016T= ENSP00000508403.1:n.2292-1016T=
ENST00000683680.1:c.2319-1016T= ENSP00000507223.1:n.2319-1016T=
ENST00000684163.1:c.2204-1484T= ENSP00000508262.1:n.2204-1484T=
ENST00000684196.1:n.4543-1484T=
ENST00000684325.1:c.2186-9294T= ENSP00000508121.1:n.2186-9294T=
ENST00000684385.1:c.2221-1484T= ENSP00000507855.1:n.2221-1484T=
ENST00000684497.1:c.2186-8324T= ENSP00000507057.1:n.2186-8324T=
ENST00000382292.9:c.12908T= MANE Select ENSP00000371729.3:p.Leu4303=
ENST00000423156.2:c.2186-1484T= ENSP00000390925.2:n.2186-1484T=
ENST00000455470.6:c.2432-1484T= ENSP00000406565.2:n.2432-1484T=
ENST00000382292.7:c.12908T= ENSP00000371729.3:p.Leu4303=
ENST00000382298.7:c.12908T= ENSP00000371735.3:p.Leu4303=
ENST00000402364.1:c.10658T= ENSP00000385844.1:p.Leu3553=
ENST00000423156.1:c.1058-1484T= ENSP00000390925.1:n.1058-1484T=
ENST00000455470.5:c.2130-1484T=
NM_001278055.1:c.12467T= NP_001264984.1:p.Leu4156=
NM_014363.5:c.12908T= NP_055178.3:p.Leu4303=
XM_005266338.1:c.12935T= XP_005266395.1:p.Leu4312=
XM_011535038.1:c.12959T= XP_011533340.1:p.Leu4320=
XM_011535039.1:c.12926T= XP_011533341.1:p.Leu4309=
XM_005266338.2:c.12935T= XP_005266395.1:p.Leu4312=
XM_011535039.2:c.12926T= XP_011533341.1:p.Leu4309=
XM_017020539.1:c.12899T= XP_016876028.1:p.Leu4300=
XM_024449337.1:c.12935T= XP_024305105.1:p.Leu4312=
NM_014363.6:c.12908T= MANE Select NP_055178.3:p.Leu4303=
NM_001278055.2:c.12467T= NP_001264984.1:p.Leu4156=