Canonical Allele Identifier: CA2078627073
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337197A= , CM000675.2:g.23337197A= GRCh38
NC_000013.10:g.23911336A= , CM000675.1:g.23911336A= GRCh37
NC_000013.9:g.22809336A= NCBI36
NG_012342.1:g.101506T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16588T= ENSP00000508399.1:n.2185+16588T=
ENST00000682944.1:c.6706T= ENSP00000507173.1:p.Leu2236=
ENST00000683210.1:c.2185+16588T= ENSP00000506739.1:n.2185+16588T=
ENST00000683270.1:c.6445+225T= ENSP00000507624.1:n.6445+225T=
ENST00000683367.1:c.2177-7713T= ENSP00000507780.1:n.2177-7713T=
ENST00000683489.1:c.2291+4388T= ENSP00000508403.1:n.2291+4388T=
ENST00000683680.1:c.2318+4388T= ENSP00000507223.1:n.2318+4388T=
ENST00000684163.1:c.2204-7713T= ENSP00000508262.1:n.2204-7713T=
ENST00000684196.1:n.4543-7713T=
ENST00000684325.1:c.2186-15523T= ENSP00000508121.1:n.2186-15523T=
ENST00000684385.1:c.2221-7713T= ENSP00000507855.1:n.2221-7713T=
ENST00000684497.1:c.2186-14553T= ENSP00000507057.1:n.2186-14553T=
ENST00000382292.9:c.6679T= MANE Select ENSP00000371729.3:p.Leu2227=
ENST00000423156.2:c.2186-7713T= ENSP00000390925.2:n.2186-7713T=
ENST00000455470.6:c.2431+4248T= ENSP00000406565.2:n.2431+4248T=
ENST00000382292.7:c.6679T= ENSP00000371729.3:p.Leu2227=
ENST00000382298.7:c.6679T= ENSP00000371735.3:p.Leu2227=
ENST00000402364.1:c.4429T= ENSP00000385844.1:p.Leu1477=
ENST00000423156.1:c.1058-7713T= ENSP00000390925.1:n.1058-7713T=
ENST00000455470.5:c.2129+4248T=
NM_001278055.1:c.6238T= NP_001264984.1:p.Leu2080=
NM_014363.5:c.6679T= NP_055178.3:p.Leu2227=
XM_005266338.1:c.6706T= XP_005266395.1:p.Leu2236=
XM_011535038.1:c.6730T= XP_011533340.1:p.Leu2244=
XM_011535039.1:c.6697T= XP_011533341.1:p.Leu2233=
XM_005266338.2:c.6706T= XP_005266395.1:p.Leu2236=
XM_011535039.2:c.6697T= XP_011533341.1:p.Leu2233=
XM_017020539.1:c.6670T= XP_016876028.1:p.Leu2224=
XM_024449337.1:c.6706T= XP_024305105.1:p.Leu2236=
NM_014363.6:c.6679T= MANE Select NP_055178.3:p.Leu2227=
NM_001278055.2:c.6238T= NP_001264984.1:p.Leu2080=