Canonical Allele Identifier: CA387507889
Community Standard Title: NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331503C>A , CM000675.2:g.23331503C>A GRCh38
NC_000013.10:g.23905642C>A , CM000675.1:g.23905642C>A GRCh37
NC_000013.9:g.22803642C>A NCBI36
NG_012342.1:g.107200G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.12373G>T MANE Select NP_055178.3:p.Gly4125Ter
ENST00000382292.9:c.12373G>T MANE Select ENSP00000371729.3:p.Gly4125Ter
NM_001278055.1:c.11932G>T NP_001264984.1:p.Gly3978Ter
NM_001278055.2:c.11932G>T NP_001264984.1:p.Gly3978Ter
NM_014363.5:c.12373G>T NP_055178.3:p.Gly4125Ter
ENST00000382292.7:c.12373G>T ENSP00000371729.3:p.Gly4125Ter
ENST00000382298.7:c.12373G>T ENSP00000371735.3:p.Gly4125Ter
ENST00000402364.1:c.10123G>T ENSP00000385844.1:p.Gly3375Ter
ENST00000423156.1:c.1058-2019G>T ENSP00000390925.1:n.1058-2019G>T
ENST00000423156.2:c.2186-2019G>T ENSP00000390925.2:n.2186-2019G>T
ENST00000455470.5:c.2130-2019G>T
ENST00000455470.6:c.2432-2019G>T ENSP00000406565.2:n.2432-2019G>T
ENST00000682775.1:c.2186-19388G>T ENSP00000508399.1:n.2186-19388G>T
ENST00000682944.1:c.12400G>T ENSP00000507173.1:p.Gly4134Ter
ENST00000683210.1:c.2185+22282G>T ENSP00000506739.1:n.2185+22282G>T
ENST00000683270.1:c.6446-2019G>T ENSP00000507624.1:n.6446-2019G>T
ENST00000683367.1:c.2177-2019G>T ENSP00000507780.1:n.2177-2019G>T
ENST00000683489.1:c.2292-1551G>T ENSP00000508403.1:n.2292-1551G>T
ENST00000683680.1:c.2319-1551G>T ENSP00000507223.1:n.2319-1551G>T
ENST00000684163.1:c.2204-2019G>T ENSP00000508262.1:n.2204-2019G>T
ENST00000684196.1:n.4543-2019G>T
ENST00000684325.1:c.2186-9829G>T ENSP00000508121.1:n.2186-9829G>T
ENST00000684385.1:c.2221-2019G>T ENSP00000507855.1:n.2221-2019G>T
ENST00000684497.1:c.2186-8859G>T ENSP00000507057.1:n.2186-8859G>T
XM_005266338.1:c.12400G>T XP_005266395.1:p.Gly4134Ter
XM_005266338.2:c.12400G>T XP_005266395.1:p.Gly4134Ter
XM_011535038.1:c.12424G>T XP_011533340.1:p.Gly4142Ter
XM_011535039.1:c.12391G>T XP_011533341.1:p.Gly4131Ter
XM_011535039.2:c.12391G>T XP_011533341.1:p.Gly4131Ter
XM_017020539.1:c.12364G>T XP_016876028.1:p.Gly4122Ter
XM_024449337.1:c.12400G>T XP_024305105.1:p.Gly4134Ter