Canonical Allele Identifier: CA1713854525
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960942G= , CM000669.2:g.65960942G= GRCh38
NC_000007.13:g.65425929G= , CM000669.1:g.65425929G= GRCh37
NC_000007.12:g.65063364G= NCBI36
NG_016197.1:g.26373C=
NG_051954.1:g.92844G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1911C= MANE Select ENSP00000302728.4:p.His637=
ENST00000304895.8:c.1911C= ENSP00000302728.4:p.His637=
ENST00000421103.5:c.1473C= ENSP00000391390.1:p.His491=
ENST00000430730.5:c.*1178C= ENSP00000411859.1:n.*1178C=
ENST00000447929.5:c.*1291C= ENSP00000411262.1:n.*1291C=
ENST00000466883.5:n.2301C=
NM_000181.3:c.1911C= NP_000172.2:p.His637=
NM_001284290.1:c.1473C= NP_001271219.1:p.His491=
NM_001293104.1:c.1341C= NP_001280033.1:p.His447=
NM_001293105.1:c.1254C= NP_001280034.1:p.His418=
NR_120531.1:n.1957C=
XM_005250297.3:c.1758C= XP_005250354.1:p.His586=
XM_011516113.1:c.1410C= XP_011514415.1:p.His470=
XM_011516114.1:c.1239C= XP_011514416.1:p.His413=
XM_005250297.4:c.1758C= XP_005250354.1:p.His586=
XM_011516114.2:c.1239C= XP_011514416.1:p.His413=
XM_017012091.1:c.1257C= XP_016867580.1:p.His419=
XM_017012092.1:c.1188C= XP_016867581.1:p.His396=
XM_017012093.2:c.1086C= XP_016867582.1:p.His362=
XR_001744658.2:n.1718C=
XR_001744659.2:n.1831C=
XR_001744660.2:n.1763C=
XR_001744661.2:n.1678C=
XR_927461.3:n.1916C=
NM_000181.4:c.1911C= MANE Select NP_000172.2:p.His637=
NM_001284290.2:c.1473C= NP_001271219.1:p.His491=
NM_001293104.2:c.1341C= NP_001280033.1:p.His447=
NM_001293105.2:c.1254C= NP_001280034.1:p.His418=
NR_120531.2:n.1856C=