Canonical Allele Identifier: CA2078629345
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338438A= , CM000675.2:g.23338438A= GRCh38
NC_000013.10:g.23912577A= , CM000675.1:g.23912577A= GRCh37
NC_000013.9:g.22810577A= NCBI36
NG_012342.1:g.100265T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15347T= ENSP00000508399.1:n.2185+15347T=
ENST00000682944.1:c.5465T= ENSP00000507173.1:p.Val1822=
ENST00000683210.1:c.2185+15347T= ENSP00000506739.1:n.2185+15347T=
ENST00000683270.1:c.5429T= ENSP00000507624.1:p.Val1810=
ENST00000683367.1:c.2177-8954T= ENSP00000507780.1:n.2177-8954T=
ENST00000683489.1:c.2291+3147T= ENSP00000508403.1:n.2291+3147T=
ENST00000683680.1:c.2318+3147T= ENSP00000507223.1:n.2318+3147T=
ENST00000684163.1:c.2203+8373T= ENSP00000508262.1:n.2203+8373T=
ENST00000684196.1:n.4543-8954T=
ENST00000684325.1:c.2185+15347T= ENSP00000508121.1:n.2185+15347T=
ENST00000684385.1:c.2220+8373T= ENSP00000507855.1:n.2220+8373T=
ENST00000684497.1:c.2185+15347T= ENSP00000507057.1:n.2185+15347T=
ENST00000382292.9:c.5438T= MANE Select ENSP00000371729.3:p.Val1813=
ENST00000423156.2:c.2186-8954T= ENSP00000390925.2:n.2186-8954T=
ENST00000455470.6:c.2431+3007T= ENSP00000406565.2:n.2431+3007T=
ENST00000382292.7:c.5438T= ENSP00000371729.3:p.Val1813=
ENST00000382298.7:c.5438T= ENSP00000371735.3:p.Val1813=
ENST00000402364.1:c.3188T= ENSP00000385844.1:p.Val1063=
ENST00000423156.1:c.1058-8954T= ENSP00000390925.1:n.1058-8954T=
ENST00000455470.5:c.2129+3007T=
NM_001278055.1:c.4997T= NP_001264984.1:p.Val1666=
NM_014363.5:c.5438T= NP_055178.3:p.Val1813=
XM_005266338.1:c.5465T= XP_005266395.1:p.Val1822=
XM_011535038.1:c.5489T= XP_011533340.1:p.Val1830=
XM_011535039.1:c.5456T= XP_011533341.1:p.Val1819=
XM_005266338.2:c.5465T= XP_005266395.1:p.Val1822=
XM_011535039.2:c.5456T= XP_011533341.1:p.Val1819=
XM_017020539.1:c.5429T= XP_016876028.1:p.Val1810=
XM_024449337.1:c.5465T= XP_024305105.1:p.Val1822=
NM_014363.6:c.5438T= MANE Select NP_055178.3:p.Val1813=
NM_001278055.2:c.4997T= NP_001264984.1:p.Val1666=