Canonical Allele Identifier: CA1713890621
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982163A= , CM000669.2:g.65982163A= GRCh38
NC_000007.13:g.65447150A= , CM000669.1:g.65447150A= GRCh37
NC_000007.12:g.65084585A= NCBI36
NG_016197.1:g.5152T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.21T= MANE Select ENSP00000302728.4:p.Val7=
ENST00000304895.8:c.21T= ENSP00000302728.4:p.Val7=
ENST00000421103.5:c.21T= ENSP00000391390.1:p.Val7=
ENST00000430730.5:c.21T= ENSP00000411859.1:p.Val7=
ENST00000446111.1:c.21T= ENSP00000416793.1:p.Val7=
ENST00000447929.5:c.21T= ENSP00000411262.1:p.Val7=
NM_000181.3:c.21T= NP_000172.2:p.Val7=
NM_001284290.1:c.21T= NP_001271219.1:p.Val7=
NM_001293104.1:c.-365T= NP_001280033.1:n.-365T=
NM_001293105.1:c.-309T= NP_001280034.1:n.-309T=
NR_120531.1:n.152T=
XM_005250297.3:c.21T= XP_005250354.1:p.Val7=
XM_011516113.1:c.-309T= XP_011514415.1:n.-309T=
XR_927461.1:n.147T=
XM_005250297.4:c.21T= XP_005250354.1:p.Val7=
XM_011516114.2:c.-665T= XP_011514416.1:n.-665T=
XM_017012091.1:c.-309T= XP_016867580.1:n.-309T=
XM_017012092.1:c.-365T= XP_016867581.1:n.-365T=
XM_017012093.2:c.-665T= XP_016867582.1:n.-665T=
XR_001744658.2:n.66T=
XR_001744659.2:n.66T=
XR_001744660.2:n.66T=
XR_001744661.2:n.66T=
XR_927461.3:n.66T=
NM_000181.4:c.21T= MANE Select NP_000172.2:p.Val7=
NM_001284290.2:c.21T= NP_001271219.1:p.Val7=
NM_001293104.2:c.-365T= NP_001280033.1:n.-365T=
NM_001293105.2:c.-309T= NP_001280034.1:n.-309T=
NR_120531.2:n.51T=