Canonical Allele Identifier: CA387546378
Community Standard Title: NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23354805T>A , CM000675.2:g.23354805T>A GRCh38
NC_000013.10:g.23928944T>A , CM000675.1:g.23928944T>A GRCh37
NC_000013.9:g.22826944T>A NCBI36
NG_012342.1:g.83898A>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.1807A>T MANE Select NP_055178.3:p.Lys603Ter
ENST00000382292.9:c.1807A>T MANE Select ENSP00000371729.3:p.Lys603Ter
NM_001278055.1:c.1366A>T NP_001264984.1:p.Lys456Ter
NM_001278055.2:c.1366A>T NP_001264984.1:p.Lys456Ter
NM_014363.5:c.1807A>T NP_055178.3:p.Lys603Ter
ENST00000382292.7:c.1807A>T ENSP00000371729.3:p.Lys603Ter
ENST00000382298.7:c.1807A>T ENSP00000371735.3:p.Lys603Ter
ENST00000402364.1:c.-444A>T ENSP00000385844.1:n.-444A>T
ENST00000423156.1:c.679A>T ENSP00000390925.1:p.Lys227Ter
ENST00000423156.2:c.1807A>T ENSP00000390925.2:p.Lys603Ter
ENST00000455470.5:c.1505A>T
ENST00000455470.6:c.1807A>T ENSP00000406565.2:p.Lys603Ter
ENST00000476776.1:n.86A>T
ENST00000682775.1:c.1807A>T ENSP00000508399.1:p.Lys603Ter
ENST00000682944.1:c.1807A>T ENSP00000507173.1:p.Lys603Ter
ENST00000683154.1:n.1945A>T
ENST00000683210.1:c.1807A>T ENSP00000506739.1:p.Lys603Ter
ENST00000683270.1:c.1798A>T ENSP00000507624.1:p.Lys600Ter
ENST00000683367.1:c.1798A>T ENSP00000507780.1:p.Lys600Ter
ENST00000683489.1:c.1807A>T ENSP00000508403.1:p.Lys603Ter
ENST00000683680.1:c.1807A>T ENSP00000507223.1:p.Lys603Ter
ENST00000684163.1:c.1798A>T ENSP00000508262.1:p.Lys600Ter
ENST00000684196.1:n.4164A>T
ENST00000684325.1:c.1807A>T ENSP00000508121.1:p.Lys603Ter
ENST00000684385.1:c.1807A>T ENSP00000507855.1:p.Lys603Ter
ENST00000684497.1:c.1807A>T ENSP00000507057.1:p.Lys603Ter
XM_005266338.1:c.1807A>T XP_005266395.1:p.Lys603Ter
XM_005266338.2:c.1807A>T XP_005266395.1:p.Lys603Ter
XM_011535038.1:c.1831A>T XP_011533340.1:p.Lys611Ter
XM_011535039.1:c.1798A>T XP_011533341.1:p.Lys600Ter
XM_011535039.2:c.1798A>T XP_011533341.1:p.Lys600Ter
XM_017020539.1:c.1798A>T XP_016876028.1:p.Lys600Ter
XM_024449337.1:c.1807A>T XP_024305105.1:p.Lys603Ter