Canonical Allele Identifier: CA2078631823
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332691G= , CM000675.2:g.23332691G= GRCh38
NC_000013.10:g.23906830G= , CM000675.1:g.23906830G= GRCh37
NC_000013.9:g.22804830G= NCBI36
NG_012342.1:g.106012C=

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11185C= MANE Select NP_055178.3:p.Gln3729=
ENST00000382292.9:c.11185C= MANE Select ENSP00000371729.3:p.Gln3729=
NM_001278055.1:c.10744C= NP_001264984.1:p.Gln3582=
NM_001278055.2:c.10744C= NP_001264984.1:p.Gln3582=
NM_014363.5:c.11185C= NP_055178.3:p.Gln3729=
ENST00000382292.7:c.11185C= ENSP00000371729.3:p.Gln3729=
ENST00000382298.7:c.11185C= ENSP00000371735.3:p.Gln3729=
ENST00000402364.1:c.8935C= ENSP00000385844.1:p.Gln2979=
ENST00000423156.1:c.1058-3207C= ENSP00000390925.1:n.1058-3207C=
ENST00000423156.2:c.2186-3207C= ENSP00000390925.2:n.2186-3207C=
ENST00000455470.5:c.2130-3207C=
ENST00000455470.6:c.2432-3207C= ENSP00000406565.2:n.2432-3207C=
ENST00000682775.1:c.2186-20576C= ENSP00000508399.1:n.2186-20576C=
ENST00000682944.1:c.11212C= ENSP00000507173.1:p.Gln3738=
ENST00000683210.1:c.2185+21094C= ENSP00000506739.1:n.2185+21094C=
ENST00000683270.1:c.6446-3207C= ENSP00000507624.1:n.6446-3207C=
ENST00000683367.1:c.2177-3207C= ENSP00000507780.1:n.2177-3207C=
ENST00000683489.1:c.2292-2739C= ENSP00000508403.1:n.2292-2739C=
ENST00000683680.1:c.2319-2739C= ENSP00000507223.1:n.2319-2739C=
ENST00000684163.1:c.2204-3207C= ENSP00000508262.1:n.2204-3207C=
ENST00000684196.1:n.4543-3207C=
ENST00000684325.1:c.2186-11017C= ENSP00000508121.1:n.2186-11017C=
ENST00000684385.1:c.2221-3207C= ENSP00000507855.1:n.2221-3207C=
ENST00000684497.1:c.2186-10047C= ENSP00000507057.1:n.2186-10047C=
XM_005266338.1:c.11212C= XP_005266395.1:p.Gln3738=
XM_005266338.2:c.11212C= XP_005266395.1:p.Gln3738=
XM_011535038.1:c.11236C= XP_011533340.1:p.Gln3746=
XM_011535039.1:c.11203C= XP_011533341.1:p.Gln3735=
XM_011535039.2:c.11203C= XP_011533341.1:p.Gln3735=
XM_017020539.1:c.11176C= XP_016876028.1:p.Gln3726=
XM_024449337.1:c.11212C= XP_024305105.1:p.Gln3738=