Canonical Allele Identifier: CA387507878
Community Standard Title: NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331498G>T , CM000675.2:g.23331498G>T GRCh38
NC_000013.10:g.23905637G>T , CM000675.1:g.23905637G>T GRCh37
NC_000013.9:g.22803637G>T NCBI36
NG_012342.1:g.107205C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.12378C>A MANE Select NP_055178.3:p.Cys4126Ter
ENST00000382292.9:c.12378C>A MANE Select ENSP00000371729.3:p.Cys4126Ter
NM_001278055.1:c.11937C>A NP_001264984.1:p.Cys3979Ter
NM_001278055.2:c.11937C>A NP_001264984.1:p.Cys3979Ter
NM_014363.5:c.12378C>A NP_055178.3:p.Cys4126Ter
ENST00000382292.7:c.12378C>A ENSP00000371729.3:p.Cys4126Ter
ENST00000382298.7:c.12378C>A ENSP00000371735.3:p.Cys4126Ter
ENST00000402364.1:c.10128C>A ENSP00000385844.1:p.Cys3376Ter
ENST00000423156.1:c.1058-2014C>A ENSP00000390925.1:n.1058-2014C>A
ENST00000423156.2:c.2186-2014C>A ENSP00000390925.2:n.2186-2014C>A
ENST00000455470.5:c.2130-2014C>A
ENST00000455470.6:c.2432-2014C>A ENSP00000406565.2:n.2432-2014C>A
ENST00000682775.1:c.2186-19383C>A ENSP00000508399.1:n.2186-19383C>A
ENST00000682944.1:c.12405C>A ENSP00000507173.1:p.Cys4135Ter
ENST00000683210.1:c.2185+22287C>A ENSP00000506739.1:n.2185+22287C>A
ENST00000683270.1:c.6446-2014C>A ENSP00000507624.1:n.6446-2014C>A
ENST00000683367.1:c.2177-2014C>A ENSP00000507780.1:n.2177-2014C>A
ENST00000683489.1:c.2292-1546C>A ENSP00000508403.1:n.2292-1546C>A
ENST00000683680.1:c.2319-1546C>A ENSP00000507223.1:n.2319-1546C>A
ENST00000684163.1:c.2204-2014C>A ENSP00000508262.1:n.2204-2014C>A
ENST00000684196.1:n.4543-2014C>A
ENST00000684325.1:c.2186-9824C>A ENSP00000508121.1:n.2186-9824C>A
ENST00000684385.1:c.2221-2014C>A ENSP00000507855.1:n.2221-2014C>A
ENST00000684497.1:c.2186-8854C>A ENSP00000507057.1:n.2186-8854C>A
XM_005266338.1:c.12405C>A XP_005266395.1:p.Cys4135Ter
XM_005266338.2:c.12405C>A XP_005266395.1:p.Cys4135Ter
XM_011535038.1:c.12429C>A XP_011533340.1:p.Cys4143Ter
XM_011535039.1:c.12396C>A XP_011533341.1:p.Cys4132Ter
XM_011535039.2:c.12396C>A XP_011533341.1:p.Cys4132Ter
XM_017020539.1:c.12369C>A XP_016876028.1:p.Cys4123Ter
XM_024449337.1:c.12405C>A XP_024305105.1:p.Cys4135Ter