Canonical Allele Identifier: CA1713890329
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65981992G= , CM000669.2:g.65981992G= GRCh38
NC_000007.13:g.65446979G= , CM000669.1:g.65446979G= GRCh37
NC_000007.12:g.65084414G= NCBI36
NG_016197.1:g.5323C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.192C= MANE Select ENSP00000302728.4:p.Tyr64=
ENST00000304895.8:c.192C= ENSP00000302728.4:p.Tyr64=
ENST00000421103.5:c.192C= ENSP00000391390.1:p.Tyr64=
ENST00000430730.5:c.192C= ENSP00000411859.1:p.Tyr64=
ENST00000446111.1:c.192C= ENSP00000416793.1:p.Tyr64=
ENST00000447929.5:c.192C= ENSP00000411262.1:p.Tyr64=
ENST00000475316.5:n.97C=
NM_000181.3:c.192C= NP_000172.2:p.Tyr64=
NM_001284290.1:c.192C= NP_001271219.1:p.Tyr64=
NM_001293104.1:c.-194C= NP_001280033.1:n.-194C=
NM_001293105.1:c.-138C= NP_001280034.1:n.-138C=
NR_120531.1:n.323C=
XM_005250297.3:c.192C= XP_005250354.1:p.Tyr64=
XM_011516113.1:c.-138C= XP_011514415.1:n.-138C=
XR_927461.1:n.318C=
XM_005250297.4:c.192C= XP_005250354.1:p.Tyr64=
XM_011516114.2:c.-494C= XP_011514416.1:n.-494C=
XM_017012091.1:c.-138C= XP_016867580.1:n.-138C=
XM_017012092.1:c.-194C= XP_016867581.1:n.-194C=
XM_017012093.2:c.-494C= XP_016867582.1:n.-494C=
XR_001744658.2:n.237C=
XR_001744659.2:n.237C=
XR_001744660.2:n.237C=
XR_001744661.2:n.237C=
XR_927461.3:n.237C=
NM_000181.4:c.192C= MANE Select NP_000172.2:p.Tyr64=
NM_001284290.2:c.192C= NP_001271219.1:p.Tyr64=
NM_001293104.2:c.-194C= NP_001280033.1:n.-194C=
NM_001293105.2:c.-138C= NP_001280034.1:n.-138C=
NR_120531.2:n.222C=