Canonical Allele Identifier: CA387552192
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23358481C>G , CM000675.2:g.23358481C>G GRCh38
NC_000013.10:g.23932620C>G , CM000675.1:g.23932620C>G GRCh37
NC_000013.9:g.22830620C>G NCBI36
NG_012342.1:g.80222G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.458G>C ENSP00000508399.1:p.Gly153Ala
ENST00000682944.1:c.458G>C ENSP00000507173.1:p.Gly153Ala
ENST00000683154.1:n.596G>C
ENST00000683210.1:c.458G>C ENSP00000506739.1:p.Gly153Ala
ENST00000683270.1:c.449G>C ENSP00000507624.1:p.Gly150Ala
ENST00000683367.1:c.449G>C ENSP00000507780.1:p.Gly150Ala
ENST00000683489.1:c.458G>C ENSP00000508403.1:p.Gly153Ala
ENST00000683680.1:c.458G>C ENSP00000507223.1:p.Gly153Ala
ENST00000684163.1:c.449G>C ENSP00000508262.1:p.Gly150Ala
ENST00000684196.1:n.2815G>C
ENST00000684325.1:c.458G>C ENSP00000508121.1:p.Gly153Ala
ENST00000684385.1:c.458G>C ENSP00000507855.1:p.Gly153Ala
ENST00000684497.1:c.458G>C ENSP00000507057.1:p.Gly153Ala
ENST00000382292.9:c.458G>C MANE Select ENSP00000371729.3:p.Gly153Ala
ENST00000423156.2:c.458G>C ENSP00000390925.2:p.Gly153Ala
ENST00000455470.6:c.458G>C ENSP00000406565.2:p.Gly153Ala
ENST00000382292.7:c.458G>C ENSP00000371729.3:p.Gly153Ala
ENST00000382298.7:c.458G>C ENSP00000371735.3:p.Gly153Ala
ENST00000402364.1:c.-1793G>C ENSP00000385844.1:n.-1793G>C
ENST00000455470.5:c.156G>C
NM_001278055.1:c.17G>C NP_001264984.1:p.Gly6Ala
NM_014363.5:c.458G>C NP_055178.3:p.Gly153Ala
XM_005266338.1:c.458G>C XP_005266395.1:p.Gly153Ala
XM_011535038.1:c.482G>C XP_011533340.1:p.Gly161Ala
XM_011535039.1:c.449G>C XP_011533341.1:p.Gly150Ala
XM_005266338.2:c.458G>C XP_005266395.1:p.Gly153Ala
XM_011535039.2:c.449G>C XP_011533341.1:p.Gly150Ala
XM_017020539.1:c.449G>C XP_016876028.1:p.Gly150Ala
XM_024449337.1:c.458G>C XP_024305105.1:p.Gly153Ala
NM_014363.6:c.458G>C MANE Select NP_055178.3:p.Gly153Ala
NM_001278055.2:c.17G>C NP_001264984.1:p.Gly6Ala