Canonical Allele Identifier: CA2078630119
Community Standard Title: NM_014363.6(SACS):c.5125C= (p.Gln1709=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338751G= , CM000675.2:g.23338751G= GRCh38
NC_000013.10:g.23912890G= , CM000675.1:g.23912890G= GRCh37
NC_000013.9:g.22810890G= NCBI36
NG_012342.1:g.99952C=

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.5125C= MANE Select NP_055178.3:p.Gln1709=
ENST00000382292.9:c.5125C= MANE Select ENSP00000371729.3:p.Gln1709=
NM_001278055.1:c.4684C= NP_001264984.1:p.Gln1562=
NM_001278055.2:c.4684C= NP_001264984.1:p.Gln1562=
NM_014363.5:c.5125C= NP_055178.3:p.Gln1709=
ENST00000382292.7:c.5125C= ENSP00000371729.3:p.Gln1709=
ENST00000382298.7:c.5125C= ENSP00000371735.3:p.Gln1709=
ENST00000402364.1:c.2875C= ENSP00000385844.1:p.Gln959=
ENST00000423156.1:c.1058-9267C= ENSP00000390925.1:n.1058-9267C=
ENST00000423156.2:c.2186-9267C= ENSP00000390925.2:n.2186-9267C=
ENST00000455470.5:c.2129+2694C=
ENST00000455470.6:c.2431+2694C= ENSP00000406565.2:n.2431+2694C=
ENST00000682775.1:c.2185+15034C= ENSP00000508399.1:n.2185+15034C=
ENST00000682944.1:c.5152C= ENSP00000507173.1:p.Gln1718=
ENST00000683210.1:c.2185+15034C= ENSP00000506739.1:n.2185+15034C=
ENST00000683270.1:c.5116C= ENSP00000507624.1:p.Gln1706=
ENST00000683367.1:c.2177-9267C= ENSP00000507780.1:n.2177-9267C=
ENST00000683489.1:c.2291+2834C= ENSP00000508403.1:n.2291+2834C=
ENST00000683680.1:c.2318+2834C= ENSP00000507223.1:n.2318+2834C=
ENST00000684163.1:c.2203+8060C= ENSP00000508262.1:n.2203+8060C=
ENST00000684196.1:n.4543-9267C=
ENST00000684325.1:c.2185+15034C= ENSP00000508121.1:n.2185+15034C=
ENST00000684385.1:c.2220+8060C= ENSP00000507855.1:n.2220+8060C=
ENST00000684497.1:c.2185+15034C= ENSP00000507057.1:n.2185+15034C=
XM_005266338.1:c.5152C= XP_005266395.1:p.Gln1718=
XM_005266338.2:c.5152C= XP_005266395.1:p.Gln1718=
XM_011535038.1:c.5176C= XP_011533340.1:p.Gln1726=
XM_011535039.1:c.5143C= XP_011533341.1:p.Gln1715=
XM_011535039.2:c.5143C= XP_011533341.1:p.Gln1715=
XM_017020539.1:c.5116C= XP_016876028.1:p.Gln1706=
XM_024449337.1:c.5152C= XP_024305105.1:p.Gln1718=