Canonical Allele Identifier: CA387518293
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336111A>G , CM000675.2:g.23336111A>G GRCh38
NC_000013.10:g.23910250A>G , CM000675.1:g.23910250A>G GRCh37
NC_000013.9:g.22808250A>G NCBI36
NG_012342.1:g.102592T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17674T>C ENSP00000508399.1:n.2185+17674T>C
ENST00000682944.1:c.7792T>C ENSP00000507173.1:p.Cys2598Arg
ENST00000683210.1:c.2185+17674T>C ENSP00000506739.1:n.2185+17674T>C
ENST00000683270.1:c.6445+1311T>C ENSP00000507624.1:n.6445+1311T>C
ENST00000683367.1:c.2177-6627T>C ENSP00000507780.1:n.2177-6627T>C
ENST00000683489.1:c.2291+5474T>C ENSP00000508403.1:n.2291+5474T>C
ENST00000683680.1:c.2318+5474T>C ENSP00000507223.1:n.2318+5474T>C
ENST00000684163.1:c.2204-6627T>C ENSP00000508262.1:n.2204-6627T>C
ENST00000684196.1:n.4543-6627T>C
ENST00000684325.1:c.2186-14437T>C ENSP00000508121.1:n.2186-14437T>C
ENST00000684385.1:c.2221-6627T>C ENSP00000507855.1:n.2221-6627T>C
ENST00000684497.1:c.2186-13467T>C ENSP00000507057.1:n.2186-13467T>C
ENST00000382292.9:c.7765T>C MANE Select ENSP00000371729.3:p.Cys2589Arg
ENST00000423156.2:c.2186-6627T>C ENSP00000390925.2:n.2186-6627T>C
ENST00000455470.6:c.2431+5334T>C ENSP00000406565.2:n.2431+5334T>C
ENST00000382292.7:c.7765T>C ENSP00000371729.3:p.Cys2589Arg
ENST00000382298.7:c.7765T>C ENSP00000371735.3:p.Cys2589Arg
ENST00000402364.1:c.5515T>C ENSP00000385844.1:p.Cys1839Arg
ENST00000423156.1:c.1058-6627T>C ENSP00000390925.1:n.1058-6627T>C
ENST00000455470.5:c.2129+5334T>C
NM_001278055.1:c.7324T>C NP_001264984.1:p.Cys2442Arg
NM_014363.5:c.7765T>C NP_055178.3:p.Cys2589Arg
XM_005266338.1:c.7792T>C XP_005266395.1:p.Cys2598Arg
XM_011535038.1:c.7816T>C XP_011533340.1:p.Cys2606Arg
XM_011535039.1:c.7783T>C XP_011533341.1:p.Cys2595Arg
XM_005266338.2:c.7792T>C XP_005266395.1:p.Cys2598Arg
XM_011535039.2:c.7783T>C XP_011533341.1:p.Cys2595Arg
XM_017020539.1:c.7756T>C XP_016876028.1:p.Cys2586Arg
XM_024449337.1:c.7792T>C XP_024305105.1:p.Cys2598Arg
NM_014363.6:c.7765T>C MANE Select NP_055178.3:p.Cys2589Arg
NM_001278055.2:c.7324T>C NP_001264984.1:p.Cys2442Arg