Canonical Allele Identifier: CA2078622328
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334993C= , CM000675.2:g.23334993C= GRCh38
NC_000013.10:g.23909132C= , CM000675.1:g.23909132C= GRCh37
NC_000013.9:g.22807132C= NCBI36
NG_012342.1:g.103710G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18792G= ENSP00000508399.1:n.2185+18792G=
ENST00000682944.1:c.8910G= ENSP00000507173.1:p.Ser2970=
ENST00000683210.1:c.2185+18792G= ENSP00000506739.1:n.2185+18792G=
ENST00000683270.1:c.6445+2429G= ENSP00000507624.1:n.6445+2429G=
ENST00000683367.1:c.2177-5509G= ENSP00000507780.1:n.2177-5509G=
ENST00000683489.1:c.2292-5041G= ENSP00000508403.1:n.2292-5041G=
ENST00000683680.1:c.2319-5041G= ENSP00000507223.1:n.2319-5041G=
ENST00000684163.1:c.2204-5509G= ENSP00000508262.1:n.2204-5509G=
ENST00000684196.1:n.4543-5509G=
ENST00000684325.1:c.2186-13319G= ENSP00000508121.1:n.2186-13319G=
ENST00000684385.1:c.2221-5509G= ENSP00000507855.1:n.2221-5509G=
ENST00000684497.1:c.2186-12349G= ENSP00000507057.1:n.2186-12349G=
ENST00000382292.9:c.8883G= MANE Select ENSP00000371729.3:p.Ser2961=
ENST00000423156.2:c.2186-5509G= ENSP00000390925.2:n.2186-5509G=
ENST00000455470.6:c.2432-5509G= ENSP00000406565.2:n.2432-5509G=
ENST00000382292.7:c.8883G= ENSP00000371729.3:p.Ser2961=
ENST00000382298.7:c.8883G= ENSP00000371735.3:p.Ser2961=
ENST00000402364.1:c.6633G= ENSP00000385844.1:p.Ser2211=
ENST00000423156.1:c.1058-5509G= ENSP00000390925.1:n.1058-5509G=
ENST00000455470.5:c.2130-5509G=
NM_001278055.1:c.8442G= NP_001264984.1:p.Ser2814=
NM_014363.5:c.8883G= NP_055178.3:p.Ser2961=
XM_005266338.1:c.8910G= XP_005266395.1:p.Ser2970=
XM_011535038.1:c.8934G= XP_011533340.1:p.Ser2978=
XM_011535039.1:c.8901G= XP_011533341.1:p.Ser2967=
XM_005266338.2:c.8910G= XP_005266395.1:p.Ser2970=
XM_011535039.2:c.8901G= XP_011533341.1:p.Ser2967=
XM_017020539.1:c.8874G= XP_016876028.1:p.Ser2958=
XM_024449337.1:c.8910G= XP_024305105.1:p.Ser2970=
NM_014363.6:c.8883G= MANE Select NP_055178.3:p.Ser2961=
NM_001278055.2:c.8442G= NP_001264984.1:p.Ser2814=