Canonical Allele Identifier: CA1713854670
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960979C= , CM000669.2:g.65960979C= GRCh38
NC_000007.13:g.65425966C= , CM000669.1:g.65425966C= GRCh37
NC_000007.12:g.65063401C= NCBI36
NG_016197.1:g.26336G=
NG_051954.1:g.92881C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1874G= MANE Select ENSP00000302728.4:p.Arg625=
ENST00000304895.8:c.1874G= ENSP00000302728.4:p.Arg625=
ENST00000421103.5:c.1436G= ENSP00000391390.1:p.Arg479=
ENST00000430730.5:c.*1141G= ENSP00000411859.1:n.*1141G=
ENST00000447929.5:c.*1254G= ENSP00000411262.1:n.*1254G=
ENST00000466883.5:n.2264G=
NM_000181.3:c.1874G= NP_000172.2:p.Arg625=
NM_001284290.1:c.1436G= NP_001271219.1:p.Arg479=
NM_001293104.1:c.1304G= NP_001280033.1:p.Arg435=
NM_001293105.1:c.1217G= NP_001280034.1:p.Arg406=
NR_120531.1:n.1920G=
XM_005250297.3:c.1721G= XP_005250354.1:p.Arg574=
XM_011516113.1:c.1373G= XP_011514415.1:p.Arg458=
XM_011516114.1:c.1202G= XP_011514416.1:p.Arg401=
XM_005250297.4:c.1721G= XP_005250354.1:p.Arg574=
XM_011516114.2:c.1202G= XP_011514416.1:p.Arg401=
XM_017012091.1:c.1220G= XP_016867580.1:p.Arg407=
XM_017012092.1:c.1151G= XP_016867581.1:p.Arg384=
XM_017012093.2:c.1049G= XP_016867582.1:p.Arg350=
XR_001744658.2:n.1681G=
XR_001744659.2:n.1794G=
XR_001744660.2:n.1726G=
XR_001744661.2:n.1641G=
XR_927461.3:n.1879G=
NM_000181.4:c.1874G= MANE Select NP_000172.2:p.Arg625=
NM_001284290.2:c.1436G= NP_001271219.1:p.Arg479=
NM_001293104.2:c.1304G= NP_001280033.1:p.Arg435=
NM_001293105.2:c.1217G= NP_001280034.1:p.Arg406=
NR_120531.2:n.1819G=