Canonical Allele Identifier: CA4276362
Community Standard Title: NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65974578G>A , CM000669.2:g.65974578G>A GRCh38
NC_000007.13:g.65439565G>A , CM000669.1:g.65439565G>A GRCh37
NC_000007.12:g.65077000G>A NCBI36
NG_016197.1:g.12737C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000181.4:c.1192C>T MANE Select NP_000172.2:p.Arg398Cys
ENST00000304895.9:c.1192C>T MANE Select ENSP00000302728.4:p.Arg398Cys
NM_000181.3:c.1192C>T NP_000172.2:p.Arg398Cys
NM_001284290.1:c.754C>T NP_001271219.1:p.Arg252Cys
NM_001284290.2:c.754C>T NP_001271219.1:p.Arg252Cys
NM_001293104.1:c.622C>T NP_001280033.1:p.Arg208Cys
NM_001293104.2:c.622C>T NP_001280033.1:p.Arg208Cys
NM_001293105.1:c.535C>T NP_001280034.1:p.Arg179Cys
NM_001293105.2:c.535C>T NP_001280034.1:p.Arg179Cys
NR_120531.1:n.1323C>T
NR_120531.2:n.1222C>T
ENST00000304895.8:c.1192C>T ENSP00000302728.4:p.Arg398Cys
ENST00000421103.5:c.754C>T ENSP00000391390.1:p.Arg252Cys
ENST00000430730.5:c.*459C>T ENSP00000411859.1:n.*459C>T
ENST00000447929.5:c.*572C>T ENSP00000411262.1:n.*572C>T
ENST00000462371.1:n.270C>T
ENST00000465785.5:n.425C>T
ENST00000466883.5:n.1583C>T
ENST00000475316.5:n.430C>T
ENST00000479038.1:n.315C>T
ENST00000489482.1:n.429C>T
XM_005250297.3:c.1039C>T XP_005250354.1:p.Arg347Cys
XM_005250297.4:c.1039C>T XP_005250354.1:p.Arg347Cys
XM_011516113.1:c.691C>T XP_011514415.1:p.Arg231Cys
XM_011516114.1:c.520C>T XP_011514416.1:p.Arg174Cys
XM_011516114.2:c.520C>T XP_011514416.1:p.Arg174Cys
XM_017012091.1:c.538C>T XP_016867580.1:p.Arg180Cys
XM_017012092.1:c.469C>T XP_016867581.1:p.Arg157Cys
XM_017012093.2:c.367C>T XP_016867582.1:p.Arg123Cys
XR_001744658.2:n.1084C>T
XR_001744659.2:n.1237C>T
XR_001744660.2:n.1084C>T
XR_001744661.2:n.1084C>T
XR_927461.1:n.1318C>T
XR_927461.3:n.1237C>T