Canonical Allele Identifier: CA2804121279
Gene: USP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490654T>G , CM000677.2:g.50490654T>G GRCh38
NC_000015.9:g.50782851T>G , CM000677.1:g.50782851T>G GRCh37
NC_000015.8:g.48570143T>G NCBI36
NG_047101.1:g.71278T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2234+129T>G MANE Select ENSP00000302239.4:n.2234+129T>G
ENST00000307179.8:c.2234+129T>G ENSP00000302239.4:n.2234+129T>G
ENST00000396444.7:c.2234+129T>G ENSP00000379721.3:n.2234+129T>G
ENST00000425032.7:c.1916+129T>G ENSP00000412682.3:n.1916+129T>G
NM_001128610.2:c.2234+129T>G NP_001122082.1:n.2234+129T>G
NM_001283049.1:c.1916+129T>G NP_001269978.1:n.1916+129T>G
NM_005154.4:c.2234+129T>G NP_005145.3:n.2234+129T>G
XM_006720761.2:c.2234+129T>G XP_006720824.1:n.2234+129T>G
XM_006720762.2:c.2147+129T>G XP_006720825.1:n.2147+129T>G
XM_011522193.1:c.2234+129T>G XP_011520495.1:n.2234+129T>G
XM_011522194.1:c.1562+129T>G XP_011520496.1:n.1562+129T>G
XM_006720761.3:c.2234+129T>G XP_006720824.1:n.2234+129T>G
XM_006720762.3:c.2147+129T>G XP_006720825.1:n.2147+129T>G
XM_011522193.3:c.2234+129T>G XP_011520495.1:n.2234+129T>G
XM_017022718.1:c.2147+129T>G XP_016878207.1:n.2147+129T>G
XM_017022719.2:c.2147+129T>G XP_016878208.1:n.2147+129T>G
XM_017022720.2:c.2147+129T>G XP_016878209.1:n.2147+129T>G
XM_017022721.2:c.1664+129T>G XP_016878210.1:n.1664+129T>G
XM_017022722.1:c.1664+129T>G XP_016878211.1:n.1664+129T>G
XM_024450098.1:c.1664+129T>G XP_024305866.1:n.1664+129T>G
NM_005154.5:c.2234+129T>G MANE Select NP_005145.3:n.2234+129T>G
NM_001128610.3:c.2234+129T>G NP_001122082.1:n.2234+129T>G
NM_001283049.2:c.1916+129T>G NP_001269978.1:n.1916+129T>G