Canonical Allele Identifier: CA387527238
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339017G>T , CM000675.2:g.23339017G>T GRCh38
NC_000013.10:g.23913156G>T , CM000675.1:g.23913156G>T GRCh37
NC_000013.9:g.22811156G>T NCBI36
NG_012342.1:g.99686C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14768C>A ENSP00000508399.1:n.2185+14768C>A
ENST00000682944.1:c.4886C>A ENSP00000507173.1:p.Pro1629Gln
ENST00000683210.1:c.2185+14768C>A ENSP00000506739.1:n.2185+14768C>A
ENST00000683270.1:c.4850C>A ENSP00000507624.1:p.Pro1617Gln
ENST00000683367.1:c.2177-9533C>A ENSP00000507780.1:n.2177-9533C>A
ENST00000683489.1:c.2291+2568C>A ENSP00000508403.1:n.2291+2568C>A
ENST00000683680.1:c.2318+2568C>A ENSP00000507223.1:n.2318+2568C>A
ENST00000684163.1:c.2203+7794C>A ENSP00000508262.1:n.2203+7794C>A
ENST00000684196.1:n.4543-9533C>A
ENST00000684325.1:c.2185+14768C>A ENSP00000508121.1:n.2185+14768C>A
ENST00000684385.1:c.2220+7794C>A ENSP00000507855.1:n.2220+7794C>A
ENST00000684497.1:c.2185+14768C>A ENSP00000507057.1:n.2185+14768C>A
ENST00000382292.9:c.4859C>A MANE Select ENSP00000371729.3:p.Pro1620Gln
ENST00000423156.2:c.2186-9533C>A ENSP00000390925.2:n.2186-9533C>A
ENST00000455470.6:c.2431+2428C>A ENSP00000406565.2:n.2431+2428C>A
ENST00000382292.7:c.4859C>A ENSP00000371729.3:p.Pro1620Gln
ENST00000382298.7:c.4859C>A ENSP00000371735.3:p.Pro1620Gln
ENST00000402364.1:c.2609C>A ENSP00000385844.1:p.Pro870Gln
ENST00000423156.1:c.1058-9533C>A ENSP00000390925.1:n.1058-9533C>A
ENST00000455470.5:c.2129+2428C>A
NM_001278055.1:c.4418C>A NP_001264984.1:p.Pro1473Gln
NM_014363.5:c.4859C>A NP_055178.3:p.Pro1620Gln
XM_005266338.1:c.4886C>A XP_005266395.1:p.Pro1629Gln
XM_011535038.1:c.4910C>A XP_011533340.1:p.Pro1637Gln
XM_011535039.1:c.4877C>A XP_011533341.1:p.Pro1626Gln
XM_005266338.2:c.4886C>A XP_005266395.1:p.Pro1629Gln
XM_011535039.2:c.4877C>A XP_011533341.1:p.Pro1626Gln
XM_017020539.1:c.4850C>A XP_016876028.1:p.Pro1617Gln
XM_024449337.1:c.4886C>A XP_024305105.1:p.Pro1629Gln
NM_014363.6:c.4859C>A MANE Select NP_055178.3:p.Pro1620Gln
NM_001278055.2:c.4418C>A NP_001264984.1:p.Pro1473Gln