Canonical Allele Identifier: CA6911830
Community Standard Title: NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23354718G>A , CM000675.2:g.23354718G>A GRCh38
NC_000013.10:g.23928857G>A , CM000675.1:g.23928857G>A GRCh37
NC_000013.9:g.22826857G>A NCBI36
NG_012342.1:g.83985C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.1894C>T MANE Select NP_055178.3:p.Arg632Trp
ENST00000382292.9:c.1894C>T MANE Select ENSP00000371729.3:p.Arg632Trp
NM_001278055.1:c.1453C>T NP_001264984.1:p.Arg485Trp
NM_001278055.2:c.1453C>T NP_001264984.1:p.Arg485Trp
NM_014363.5:c.1894C>T NP_055178.3:p.Arg632Trp
ENST00000382292.7:c.1894C>T ENSP00000371729.3:p.Arg632Trp
ENST00000382298.7:c.1894C>T ENSP00000371735.3:p.Arg632Trp
ENST00000402364.1:c.-357C>T ENSP00000385844.1:n.-357C>T
ENST00000423156.1:c.766C>T ENSP00000390925.1:p.Arg256Trp
ENST00000423156.2:c.1894C>T ENSP00000390925.2:p.Arg632Trp
ENST00000455470.5:c.1592C>T
ENST00000455470.6:c.1894C>T ENSP00000406565.2:p.Arg632Trp
ENST00000476776.1:n.173C>T
ENST00000682775.1:c.1894C>T ENSP00000508399.1:p.Arg632Trp
ENST00000682944.1:c.1894C>T ENSP00000507173.1:p.Arg632Trp
ENST00000683154.1:n.2032C>T
ENST00000683210.1:c.1894C>T ENSP00000506739.1:p.Arg632Trp
ENST00000683270.1:c.1885C>T ENSP00000507624.1:p.Arg629Trp
ENST00000683367.1:c.1885C>T ENSP00000507780.1:p.Arg629Trp
ENST00000683489.1:c.1894C>T ENSP00000508403.1:p.Arg632Trp
ENST00000683680.1:c.1894C>T ENSP00000507223.1:p.Arg632Trp
ENST00000684163.1:c.1885C>T ENSP00000508262.1:p.Arg629Trp
ENST00000684196.1:n.4251C>T
ENST00000684325.1:c.1894C>T ENSP00000508121.1:p.Arg632Trp
ENST00000684385.1:c.1894C>T ENSP00000507855.1:p.Arg632Trp
ENST00000684497.1:c.1894C>T ENSP00000507057.1:p.Arg632Trp
XM_005266338.1:c.1894C>T XP_005266395.1:p.Arg632Trp
XM_005266338.2:c.1894C>T XP_005266395.1:p.Arg632Trp
XM_011535038.1:c.1918C>T XP_011533340.1:p.Arg640Trp
XM_011535039.1:c.1885C>T XP_011533341.1:p.Arg629Trp
XM_011535039.2:c.1885C>T XP_011533341.1:p.Arg629Trp
XM_017020539.1:c.1885C>T XP_016876028.1:p.Arg629Trp
XM_024449337.1:c.1894C>T XP_024305105.1:p.Arg632Trp