Canonical Allele Identifier: CA2244747783
Gene: USP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5155513G= , CM000679.2:g.5155513G= GRCh38
NC_000017.10:g.5058808G= , CM000679.1:g.5058808G= GRCh37
NC_000017.9:g.4999532G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001304284.2:c.2735G= MANE Select NP_001291213.1:p.Arg912=
ENST00000574788.6:c.2735G= MANE Select ENSP00000460380.1:p.Arg912=
NM_001304284.1:c.2735G= NP_001291213.1:p.Arg912=
NM_004505.3:c.2735G= NP_004496.2:p.Arg912=
NM_004505.4:c.2735G= NP_004496.2:p.Arg912=
ENST00000250066.6:c.2735G= ENSP00000250066.6:p.Arg912=
ENST00000572949.5:c.*262G= ENSP00000461581.1:n.*262G=
ENST00000574788.5:c.2735G= ENSP00000460380.1:p.Arg912=
ENST00000575709.5:c.*1815G= ENSP00000461817.1:n.*1815G=
XM_011524049.1:c.2735G= XP_011522351.1:p.Arg912=
XM_011524050.1:c.2735G= XP_011522352.1:p.Arg912=
XM_011524051.1:c.2735G= XP_011522353.1:p.Arg912=
XM_011524051.2:c.2735G= XP_011522353.1:p.Arg912=
XM_011524052.1:c.2735G= XP_011522354.1:p.Arg912=
XM_011524052.2:c.2735G= XP_011522354.1:p.Arg912=
XM_011524053.1:c.2735G= XP_011522355.1:p.Arg912=
XM_011524053.2:c.2735G= XP_011522355.1:p.Arg912=
XM_011524054.1:c.2735G= XP_011522356.1:p.Arg912=
XM_011524054.2:c.2735G= XP_011522356.1:p.Arg912=
XM_011524055.1:c.2735G= XP_011522357.1:p.Arg912=
XM_011524055.2:c.2735G= XP_011522357.1:p.Arg912=
XM_011524056.1:c.2735G= XP_011522358.1:p.Arg912=
XM_011524056.2:c.2735G= XP_011522358.1:p.Arg912=
XM_011524057.1:c.2669G= XP_011522359.1:p.Arg890=
XM_011524057.2:c.2669G= XP_011522359.1:p.Arg890=
XM_011524058.1:c.2735G= XP_011522360.1:p.Arg912=
XM_011524058.2:c.2735G= XP_011522360.1:p.Arg912=
XM_017025290.1:c.2735G= XP_016880779.1:p.Arg912=