Canonical Allele Identifier: CA1713864818
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65967852T= , CM000669.2:g.65967852T= GRCh38
NC_000007.13:g.65432839T= , CM000669.1:g.65432839T= GRCh37
NC_000007.12:g.65070274T= NCBI36
NG_016197.1:g.19463A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1532A= MANE Select ENSP00000302728.4:p.Tyr511=
ENST00000304895.8:c.1532A= ENSP00000302728.4:p.Tyr511=
ENST00000421103.5:c.1094A= ENSP00000391390.1:p.Tyr365=
ENST00000430730.5:c.*799A= ENSP00000411859.1:n.*799A=
ENST00000447929.5:c.*912A= ENSP00000411262.1:n.*912A=
ENST00000461622.1:n.57A=
ENST00000462371.1:n.570A=
ENST00000466883.5:n.1922A=
NM_000181.3:c.1532A= NP_000172.2:p.Tyr511=
NM_001284290.1:c.1094A= NP_001271219.1:p.Tyr365=
NM_001293104.1:c.962A= NP_001280033.1:p.Tyr321=
NM_001293105.1:c.875A= NP_001280034.1:p.Tyr292=
NR_120531.1:n.1578A=
XM_005250297.3:c.1379A= XP_005250354.1:p.Tyr460=
XM_011516113.1:c.1031A= XP_011514415.1:p.Tyr344=
XM_011516114.1:c.860A= XP_011514416.1:p.Tyr287=
XR_927461.1:n.1618A=
XM_005250297.4:c.1379A= XP_005250354.1:p.Tyr460=
XM_011516114.2:c.860A= XP_011514416.1:p.Tyr287=
XM_017012091.1:c.878A= XP_016867580.1:p.Tyr293=
XM_017012092.1:c.809A= XP_016867581.1:p.Tyr270=
XM_017012093.2:c.707A= XP_016867582.1:p.Tyr236=
XR_001744658.2:n.1339A=
XR_001744659.2:n.1452A=
XR_001744660.2:n.1384A=
XR_001744661.2:n.1299A=
XR_927461.3:n.1537A=
NM_000181.4:c.1532A= MANE Select NP_000172.2:p.Tyr511=
NM_001284290.2:c.1094A= NP_001271219.1:p.Tyr365=
NM_001293104.2:c.962A= NP_001280033.1:p.Tyr321=
NM_001293105.2:c.875A= NP_001280034.1:p.Tyr292=
NR_120531.2:n.1477A=