Canonical Allele Identifier: CA2078627715
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337526T= , CM000675.2:g.23337526T= GRCh38
NC_000013.10:g.23911665T= , CM000675.1:g.23911665T= GRCh37
NC_000013.9:g.22809665T= NCBI36
NG_012342.1:g.101177A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16259A= ENSP00000508399.1:n.2185+16259A=
ENST00000682944.1:c.6377A= ENSP00000507173.1:p.Glu2126=
ENST00000683210.1:c.2185+16259A= ENSP00000506739.1:n.2185+16259A=
ENST00000683270.1:c.6341A= ENSP00000507624.1:p.Glu2114=
ENST00000683367.1:c.2177-8042A= ENSP00000507780.1:n.2177-8042A=
ENST00000683489.1:c.2291+4059A= ENSP00000508403.1:n.2291+4059A=
ENST00000683680.1:c.2318+4059A= ENSP00000507223.1:n.2318+4059A=
ENST00000684163.1:c.2204-8042A= ENSP00000508262.1:n.2204-8042A=
ENST00000684196.1:n.4543-8042A=
ENST00000684325.1:c.2186-15852A= ENSP00000508121.1:n.2186-15852A=
ENST00000684385.1:c.2221-8042A= ENSP00000507855.1:n.2221-8042A=
ENST00000684497.1:c.2186-14882A= ENSP00000507057.1:n.2186-14882A=
ENST00000382292.9:c.6350A= MANE Select ENSP00000371729.3:p.Glu2117=
ENST00000423156.2:c.2186-8042A= ENSP00000390925.2:n.2186-8042A=
ENST00000455470.6:c.2431+3919A= ENSP00000406565.2:n.2431+3919A=
ENST00000382292.7:c.6350A= ENSP00000371729.3:p.Glu2117=
ENST00000382298.7:c.6350A= ENSP00000371735.3:p.Glu2117=
ENST00000402364.1:c.4100A= ENSP00000385844.1:p.Glu1367=
ENST00000423156.1:c.1058-8042A= ENSP00000390925.1:n.1058-8042A=
ENST00000455470.5:c.2129+3919A=
NM_001278055.1:c.5909A= NP_001264984.1:p.Glu1970=
NM_014363.5:c.6350A= NP_055178.3:p.Glu2117=
XM_005266338.1:c.6377A= XP_005266395.1:p.Glu2126=
XM_011535038.1:c.6401A= XP_011533340.1:p.Glu2134=
XM_011535039.1:c.6368A= XP_011533341.1:p.Glu2123=
XM_005266338.2:c.6377A= XP_005266395.1:p.Glu2126=
XM_011535039.2:c.6368A= XP_011533341.1:p.Glu2123=
XM_017020539.1:c.6341A= XP_016876028.1:p.Glu2114=
XM_024449337.1:c.6377A= XP_024305105.1:p.Glu2126=
NM_014363.6:c.6350A= MANE Select NP_055178.3:p.Glu2117=
NM_001278055.2:c.5909A= NP_001264984.1:p.Glu1970=