Canonical Allele Identifier: CA387508480
Community Standard Title: NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331770T>A , CM000675.2:g.23331770T>A GRCh38
NC_000013.10:g.23905909T>A , CM000675.1:g.23905909T>A GRCh37
NC_000013.9:g.22803909T>A NCBI36
NG_012342.1:g.106933A>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.12106A>T MANE Select NP_055178.3:p.Arg4036Ter
ENST00000382292.9:c.12106A>T MANE Select ENSP00000371729.3:p.Arg4036Ter
NM_001278055.1:c.11665A>T NP_001264984.1:p.Arg3889Ter
NM_001278055.2:c.11665A>T NP_001264984.1:p.Arg3889Ter
NM_014363.5:c.12106A>T NP_055178.3:p.Arg4036Ter
ENST00000382292.7:c.12106A>T ENSP00000371729.3:p.Arg4036Ter
ENST00000382298.7:c.12106A>T ENSP00000371735.3:p.Arg4036Ter
ENST00000402364.1:c.9856A>T ENSP00000385844.1:p.Arg3286Ter
ENST00000423156.1:c.1058-2286A>T ENSP00000390925.1:n.1058-2286A>T
ENST00000423156.2:c.2186-2286A>T ENSP00000390925.2:n.2186-2286A>T
ENST00000455470.5:c.2130-2286A>T
ENST00000455470.6:c.2432-2286A>T ENSP00000406565.2:n.2432-2286A>T
ENST00000682775.1:c.2186-19655A>T ENSP00000508399.1:n.2186-19655A>T
ENST00000682944.1:c.12133A>T ENSP00000507173.1:p.Arg4045Ter
ENST00000683210.1:c.2185+22015A>T ENSP00000506739.1:n.2185+22015A>T
ENST00000683270.1:c.6446-2286A>T ENSP00000507624.1:n.6446-2286A>T
ENST00000683367.1:c.2177-2286A>T ENSP00000507780.1:n.2177-2286A>T
ENST00000683489.1:c.2292-1818A>T ENSP00000508403.1:n.2292-1818A>T
ENST00000683680.1:c.2319-1818A>T ENSP00000507223.1:n.2319-1818A>T
ENST00000684163.1:c.2204-2286A>T ENSP00000508262.1:n.2204-2286A>T
ENST00000684196.1:n.4543-2286A>T
ENST00000684325.1:c.2186-10096A>T ENSP00000508121.1:n.2186-10096A>T
ENST00000684385.1:c.2221-2286A>T ENSP00000507855.1:n.2221-2286A>T
ENST00000684497.1:c.2186-9126A>T ENSP00000507057.1:n.2186-9126A>T
XM_005266338.1:c.12133A>T XP_005266395.1:p.Arg4045Ter
XM_005266338.2:c.12133A>T XP_005266395.1:p.Arg4045Ter
XM_011535038.1:c.12157A>T XP_011533340.1:p.Arg4053Ter
XM_011535039.1:c.12124A>T XP_011533341.1:p.Arg4042Ter
XM_011535039.2:c.12124A>T XP_011533341.1:p.Arg4042Ter
XM_017020539.1:c.12097A>T XP_016876028.1:p.Arg4033Ter
XM_024449337.1:c.12133A>T XP_024305105.1:p.Arg4045Ter