Canonical Allele Identifier: CA2078642969
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340677T= , CM000675.2:g.23340677T= GRCh38
NC_000013.10:g.23914816T= , CM000675.1:g.23914816T= GRCh37
NC_000013.9:g.22812816T= NCBI36
NG_012342.1:g.98026A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+13108A= ENSP00000508399.1:n.2185+13108A=
ENST00000682944.1:c.3226A= ENSP00000507173.1:p.Asn1076=
ENST00000683210.1:c.2185+13108A= ENSP00000506739.1:n.2185+13108A=
ENST00000683270.1:c.3190A= ENSP00000507624.1:p.Asn1064=
ENST00000683367.1:c.2177-11193A= ENSP00000507780.1:n.2177-11193A=
ENST00000683489.1:c.2291+908A= ENSP00000508403.1:n.2291+908A=
ENST00000683680.1:c.2318+908A= ENSP00000507223.1:n.2318+908A=
ENST00000684163.1:c.2203+6134A= ENSP00000508262.1:n.2203+6134A=
ENST00000684196.1:n.4543-11193A=
ENST00000684325.1:c.2185+13108A= ENSP00000508121.1:n.2185+13108A=
ENST00000684385.1:c.2220+6134A= ENSP00000507855.1:n.2220+6134A=
ENST00000684497.1:c.2185+13108A= ENSP00000507057.1:n.2185+13108A=
ENST00000382292.9:c.3199A= MANE Select ENSP00000371729.3:p.Asn1067=
ENST00000423156.2:c.2186-11193A= ENSP00000390925.2:n.2186-11193A=
ENST00000455470.6:c.2431+768A= ENSP00000406565.2:n.2431+768A=
ENST00000382292.7:c.3199A= ENSP00000371729.3:p.Asn1067=
ENST00000382298.7:c.3199A= ENSP00000371735.3:p.Asn1067=
ENST00000402364.1:c.949A= ENSP00000385844.1:p.Asn317=
ENST00000423156.1:c.1058-11193A= ENSP00000390925.1:n.1058-11193A=
ENST00000455470.5:c.2129+768A=
NM_001278055.1:c.2758A= NP_001264984.1:p.Asn920=
NM_014363.5:c.3199A= NP_055178.3:p.Asn1067=
XM_005266338.1:c.3226A= XP_005266395.1:p.Asn1076=
XM_011535038.1:c.3250A= XP_011533340.1:p.Asn1084=
XM_011535039.1:c.3217A= XP_011533341.1:p.Asn1073=
XM_005266338.2:c.3226A= XP_005266395.1:p.Asn1076=
XM_011535039.2:c.3217A= XP_011533341.1:p.Asn1073=
XM_017020539.1:c.3190A= XP_016876028.1:p.Asn1064=
XM_024449337.1:c.3226A= XP_024305105.1:p.Asn1076=
NM_014363.6:c.3199A= MANE Select NP_055178.3:p.Asn1067=
NM_001278055.2:c.2758A= NP_001264984.1:p.Asn920=