Canonical Allele Identifier: CA2078627730
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337532T= , CM000675.2:g.23337532T= GRCh38
NC_000013.10:g.23911671T= , CM000675.1:g.23911671T= GRCh37
NC_000013.9:g.22809671T= NCBI36
NG_012342.1:g.101171A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16253A= ENSP00000508399.1:n.2185+16253A=
ENST00000682944.1:c.6371A= ENSP00000507173.1:p.His2124=
ENST00000683210.1:c.2185+16253A= ENSP00000506739.1:n.2185+16253A=
ENST00000683270.1:c.6335A= ENSP00000507624.1:p.His2112=
ENST00000683367.1:c.2177-8048A= ENSP00000507780.1:n.2177-8048A=
ENST00000683489.1:c.2291+4053A= ENSP00000508403.1:n.2291+4053A=
ENST00000683680.1:c.2318+4053A= ENSP00000507223.1:n.2318+4053A=
ENST00000684163.1:c.2204-8048A= ENSP00000508262.1:n.2204-8048A=
ENST00000684196.1:n.4543-8048A=
ENST00000684325.1:c.2186-15858A= ENSP00000508121.1:n.2186-15858A=
ENST00000684385.1:c.2221-8048A= ENSP00000507855.1:n.2221-8048A=
ENST00000684497.1:c.2186-14888A= ENSP00000507057.1:n.2186-14888A=
ENST00000382292.9:c.6344A= MANE Select ENSP00000371729.3:p.His2115=
ENST00000423156.2:c.2186-8048A= ENSP00000390925.2:n.2186-8048A=
ENST00000455470.6:c.2431+3913A= ENSP00000406565.2:n.2431+3913A=
ENST00000382292.7:c.6344A= ENSP00000371729.3:p.His2115=
ENST00000382298.7:c.6344A= ENSP00000371735.3:p.His2115=
ENST00000402364.1:c.4094A= ENSP00000385844.1:p.His1365=
ENST00000423156.1:c.1058-8048A= ENSP00000390925.1:n.1058-8048A=
ENST00000455470.5:c.2129+3913A=
NM_001278055.1:c.5903A= NP_001264984.1:p.His1968=
NM_014363.5:c.6344A= NP_055178.3:p.His2115=
XM_005266338.1:c.6371A= XP_005266395.1:p.His2124=
XM_011535038.1:c.6395A= XP_011533340.1:p.His2132=
XM_011535039.1:c.6362A= XP_011533341.1:p.His2121=
XM_005266338.2:c.6371A= XP_005266395.1:p.His2124=
XM_011535039.2:c.6362A= XP_011533341.1:p.His2121=
XM_017020539.1:c.6335A= XP_016876028.1:p.His2112=
XM_024449337.1:c.6371A= XP_024305105.1:p.His2124=
NM_014363.6:c.6344A= MANE Select NP_055178.3:p.His2115=
NM_001278055.2:c.5903A= NP_001264984.1:p.His1968=