Canonical Allele Identifier: CA1713854655
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960977A= , CM000669.2:g.65960977A= GRCh38
NC_000007.13:g.65425964A= , CM000669.1:g.65425964A= GRCh37
NC_000007.12:g.65063399A= NCBI36
NG_016197.1:g.26338T=
NG_051954.1:g.92879A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1876T= MANE Select ENSP00000302728.4:p.Tyr626=
ENST00000304895.8:c.1876T= ENSP00000302728.4:p.Tyr626=
ENST00000421103.5:c.1438T= ENSP00000391390.1:p.Tyr480=
ENST00000430730.5:c.*1143T= ENSP00000411859.1:n.*1143T=
ENST00000447929.5:c.*1256T= ENSP00000411262.1:n.*1256T=
ENST00000466883.5:n.2266T=
NM_000181.3:c.1876T= NP_000172.2:p.Tyr626=
NM_001284290.1:c.1438T= NP_001271219.1:p.Tyr480=
NM_001293104.1:c.1306T= NP_001280033.1:p.Tyr436=
NM_001293105.1:c.1219T= NP_001280034.1:p.Tyr407=
NR_120531.1:n.1922T=
XM_005250297.3:c.1723T= XP_005250354.1:p.Tyr575=
XM_011516113.1:c.1375T= XP_011514415.1:p.Tyr459=
XM_011516114.1:c.1204T= XP_011514416.1:p.Tyr402=
XM_005250297.4:c.1723T= XP_005250354.1:p.Tyr575=
XM_011516114.2:c.1204T= XP_011514416.1:p.Tyr402=
XM_017012091.1:c.1222T= XP_016867580.1:p.Tyr408=
XM_017012092.1:c.1153T= XP_016867581.1:p.Tyr385=
XM_017012093.2:c.1051T= XP_016867582.1:p.Tyr351=
XR_001744658.2:n.1683T=
XR_001744659.2:n.1796T=
XR_001744660.2:n.1728T=
XR_001744661.2:n.1643T=
XR_927461.3:n.1881T=
NM_000181.4:c.1876T= MANE Select NP_000172.2:p.Tyr626=
NM_001284290.2:c.1438T= NP_001271219.1:p.Tyr480=
NM_001293104.2:c.1306T= NP_001280033.1:p.Tyr436=
NM_001293105.2:c.1219T= NP_001280034.1:p.Tyr407=
NR_120531.2:n.1821T=