Canonical Allele Identifier: CA2078627693
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337512T= , CM000675.2:g.23337512T= GRCh38
NC_000013.10:g.23911651T= , CM000675.1:g.23911651T= GRCh37
NC_000013.9:g.22809651T= NCBI36
NG_012342.1:g.101191A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16273A= ENSP00000508399.1:n.2185+16273A=
ENST00000682944.1:c.6391A= ENSP00000507173.1:p.Lys2131=
ENST00000683210.1:c.2185+16273A= ENSP00000506739.1:n.2185+16273A=
ENST00000683270.1:c.6355A= ENSP00000507624.1:p.Lys2119=
ENST00000683367.1:c.2177-8028A= ENSP00000507780.1:n.2177-8028A=
ENST00000683489.1:c.2291+4073A= ENSP00000508403.1:n.2291+4073A=
ENST00000683680.1:c.2318+4073A= ENSP00000507223.1:n.2318+4073A=
ENST00000684163.1:c.2204-8028A= ENSP00000508262.1:n.2204-8028A=
ENST00000684196.1:n.4543-8028A=
ENST00000684325.1:c.2186-15838A= ENSP00000508121.1:n.2186-15838A=
ENST00000684385.1:c.2221-8028A= ENSP00000507855.1:n.2221-8028A=
ENST00000684497.1:c.2186-14868A= ENSP00000507057.1:n.2186-14868A=
ENST00000382292.9:c.6364A= MANE Select ENSP00000371729.3:p.Lys2122=
ENST00000423156.2:c.2186-8028A= ENSP00000390925.2:n.2186-8028A=
ENST00000455470.6:c.2431+3933A= ENSP00000406565.2:n.2431+3933A=
ENST00000382292.7:c.6364A= ENSP00000371729.3:p.Lys2122=
ENST00000382298.7:c.6364A= ENSP00000371735.3:p.Lys2122=
ENST00000402364.1:c.4114A= ENSP00000385844.1:p.Lys1372=
ENST00000423156.1:c.1058-8028A= ENSP00000390925.1:n.1058-8028A=
ENST00000455470.5:c.2129+3933A=
NM_001278055.1:c.5923A= NP_001264984.1:p.Lys1975=
NM_014363.5:c.6364A= NP_055178.3:p.Lys2122=
XM_005266338.1:c.6391A= XP_005266395.1:p.Lys2131=
XM_011535038.1:c.6415A= XP_011533340.1:p.Lys2139=
XM_011535039.1:c.6382A= XP_011533341.1:p.Lys2128=
XM_005266338.2:c.6391A= XP_005266395.1:p.Lys2131=
XM_011535039.2:c.6382A= XP_011533341.1:p.Lys2128=
XM_017020539.1:c.6355A= XP_016876028.1:p.Lys2119=
XM_024449337.1:c.6391A= XP_024305105.1:p.Lys2131=
NM_014363.6:c.6364A= MANE Select NP_055178.3:p.Lys2122=
NM_001278055.2:c.5923A= NP_001264984.1:p.Lys1975=