Canonical Allele Identifier: CA392398974
Gene: USP8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490394G>C , CM000677.2:g.50490394G>C GRCh38
NC_000015.9:g.50782591G>C , CM000677.1:g.50782591G>C GRCh37
NC_000015.8:g.48569883G>C NCBI36
NG_047101.1:g.71018G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2103G>C MANE Select ENSP00000302239.4:p.Gln701His
ENST00000307179.8:c.2103G>C ENSP00000302239.4:p.Gln701His
ENST00000396444.7:c.2103G>C ENSP00000379721.3:p.Gln701His
ENST00000425032.7:c.1785G>C ENSP00000412682.3:p.Gln595His
ENST00000561206.1:n.520G>C
NM_001128610.2:c.2103G>C NP_001122082.1:p.Gln701His
NM_001283049.1:c.1785G>C NP_001269978.1:p.Gln595His
NM_005154.4:c.2103G>C NP_005145.3:p.Gln701His
XM_006720761.2:c.2103G>C XP_006720824.1:p.Gln701His
XM_006720762.2:c.2016G>C XP_006720825.1:p.Gln672His
XM_011522193.1:c.2103G>C XP_011520495.1:p.Gln701His
XM_011522194.1:c.1431G>C XP_011520496.1:p.Gln477His
XM_006720761.3:c.2103G>C XP_006720824.1:p.Gln701His
XM_006720762.3:c.2016G>C XP_006720825.1:p.Gln672His
XM_011522193.3:c.2103G>C XP_011520495.1:p.Gln701His
XM_017022718.1:c.2016G>C XP_016878207.1:p.Gln672His
XM_017022719.2:c.2016G>C XP_016878208.1:p.Gln672His
XM_017022720.2:c.2016G>C XP_016878209.1:p.Gln672His
XM_017022721.2:c.1533G>C XP_016878210.1:p.Gln511His
XM_017022722.1:c.1533G>C XP_016878211.1:p.Gln511His
XM_024450098.1:c.1533G>C XP_024305866.1:p.Gln511His
NM_005154.5:c.2103G>C MANE Select NP_005145.3:p.Gln701His
NM_001128610.3:c.2103G>C NP_001122082.1:p.Gln701His
NM_001283049.2:c.1785G>C NP_001269978.1:p.Gln595His