Canonical Allele Identifier: CA387521828
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337436T>C , CM000675.2:g.23337436T>C GRCh38
NC_000013.10:g.23911575T>C , CM000675.1:g.23911575T>C GRCh37
NC_000013.9:g.22809575T>C NCBI36
NG_012342.1:g.101267A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16349A>G ENSP00000508399.1:n.2185+16349A>G
ENST00000682944.1:c.6467A>G ENSP00000507173.1:p.Lys2156Arg
ENST00000683210.1:c.2185+16349A>G ENSP00000506739.1:n.2185+16349A>G
ENST00000683270.1:c.6431A>G ENSP00000507624.1:p.Lys2144Arg
ENST00000683367.1:c.2177-7952A>G ENSP00000507780.1:n.2177-7952A>G
ENST00000683489.1:c.2291+4149A>G ENSP00000508403.1:n.2291+4149A>G
ENST00000683680.1:c.2318+4149A>G ENSP00000507223.1:n.2318+4149A>G
ENST00000684163.1:c.2204-7952A>G ENSP00000508262.1:n.2204-7952A>G
ENST00000684196.1:n.4543-7952A>G
ENST00000684325.1:c.2186-15762A>G ENSP00000508121.1:n.2186-15762A>G
ENST00000684385.1:c.2221-7952A>G ENSP00000507855.1:n.2221-7952A>G
ENST00000684497.1:c.2186-14792A>G ENSP00000507057.1:n.2186-14792A>G
ENST00000382292.9:c.6440A>G MANE Select ENSP00000371729.3:p.Lys2147Arg
ENST00000423156.2:c.2186-7952A>G ENSP00000390925.2:n.2186-7952A>G
ENST00000455470.6:c.2431+4009A>G ENSP00000406565.2:n.2431+4009A>G
ENST00000382292.7:c.6440A>G ENSP00000371729.3:p.Lys2147Arg
ENST00000382298.7:c.6440A>G ENSP00000371735.3:p.Lys2147Arg
ENST00000402364.1:c.4190A>G ENSP00000385844.1:p.Lys1397Arg
ENST00000423156.1:c.1058-7952A>G ENSP00000390925.1:n.1058-7952A>G
ENST00000455470.5:c.2129+4009A>G
NM_001278055.1:c.5999A>G NP_001264984.1:p.Lys2000Arg
NM_014363.5:c.6440A>G NP_055178.3:p.Lys2147Arg
XM_005266338.1:c.6467A>G XP_005266395.1:p.Lys2156Arg
XM_011535038.1:c.6491A>G XP_011533340.1:p.Lys2164Arg
XM_011535039.1:c.6458A>G XP_011533341.1:p.Lys2153Arg
XM_005266338.2:c.6467A>G XP_005266395.1:p.Lys2156Arg
XM_011535039.2:c.6458A>G XP_011533341.1:p.Lys2153Arg
XM_017020539.1:c.6431A>G XP_016876028.1:p.Lys2144Arg
XM_024449337.1:c.6467A>G XP_024305105.1:p.Lys2156Arg
NM_014363.6:c.6440A>G MANE Select NP_055178.3:p.Lys2147Arg
NM_001278055.2:c.5999A>G NP_001264984.1:p.Lys2000Arg