Canonical Allele Identifier: CA387514218
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334339T>A , CM000675.2:g.23334339T>A GRCh38
NC_000013.10:g.23908478T>A , CM000675.1:g.23908478T>A GRCh37
NC_000013.9:g.22806478T>A NCBI36
NG_012342.1:g.104364A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19446A>T ENSP00000508399.1:n.2185+19446A>T
ENST00000682944.1:c.9564A>T ENSP00000507173.1:p.Glu3188Asp
ENST00000683210.1:c.2185+19446A>T ENSP00000506739.1:n.2185+19446A>T
ENST00000683270.1:c.6445+3083A>T ENSP00000507624.1:n.6445+3083A>T
ENST00000683367.1:c.2177-4855A>T ENSP00000507780.1:n.2177-4855A>T
ENST00000683489.1:c.2292-4387A>T ENSP00000508403.1:n.2292-4387A>T
ENST00000683680.1:c.2319-4387A>T ENSP00000507223.1:n.2319-4387A>T
ENST00000684163.1:c.2204-4855A>T ENSP00000508262.1:n.2204-4855A>T
ENST00000684196.1:n.4543-4855A>T
ENST00000684325.1:c.2186-12665A>T ENSP00000508121.1:n.2186-12665A>T
ENST00000684385.1:c.2221-4855A>T ENSP00000507855.1:n.2221-4855A>T
ENST00000684497.1:c.2186-11695A>T ENSP00000507057.1:n.2186-11695A>T
ENST00000382292.9:c.9537A>T MANE Select ENSP00000371729.3:p.Glu3179Asp
ENST00000423156.2:c.2186-4855A>T ENSP00000390925.2:n.2186-4855A>T
ENST00000455470.6:c.2432-4855A>T ENSP00000406565.2:n.2432-4855A>T
ENST00000382292.7:c.9537A>T ENSP00000371729.3:p.Glu3179Asp
ENST00000382298.7:c.9537A>T ENSP00000371735.3:p.Glu3179Asp
ENST00000402364.1:c.7287A>T ENSP00000385844.1:p.Glu2429Asp
ENST00000423156.1:c.1058-4855A>T ENSP00000390925.1:n.1058-4855A>T
ENST00000455470.5:c.2130-4855A>T
NM_001278055.1:c.9096A>T NP_001264984.1:p.Glu3032Asp
NM_014363.5:c.9537A>T NP_055178.3:p.Glu3179Asp
XM_005266338.1:c.9564A>T XP_005266395.1:p.Glu3188Asp
XM_011535038.1:c.9588A>T XP_011533340.1:p.Glu3196Asp
XM_011535039.1:c.9555A>T XP_011533341.1:p.Glu3185Asp
XM_005266338.2:c.9564A>T XP_005266395.1:p.Glu3188Asp
XM_011535039.2:c.9555A>T XP_011533341.1:p.Glu3185Asp
XM_017020539.1:c.9528A>T XP_016876028.1:p.Glu3176Asp
XM_024449337.1:c.9564A>T XP_024305105.1:p.Glu3188Asp
NM_014363.6:c.9537A>T MANE Select NP_055178.3:p.Glu3179Asp
NM_001278055.2:c.9096A>T NP_001264984.1:p.Glu3032Asp