Canonical Allele Identifier: CA411946196
Gene: TRMU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46352160C>T , CM000684.2:g.46352160C>T GRCh38
NC_000022.10:g.46748057C>T , CM000684.1:g.46748057C>T GRCh37
NC_000022.9:g.45126721C>T NCBI36
NG_012173.1:g.21760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465378.6:n.739C>T
ENST00000642923.1:c.586C>T ENSP00000494255.1:p.His196Tyr
ENST00000643137.1:c.586C>T ENSP00000495331.1:p.His196Tyr
ENST00000644006.1:c.*135C>T ENSP00000493778.1:n.*135C>T
ENST00000645026.1:n.742C>T
ENST00000645190.1:c.691C>T MANE Select ENSP00000496496.1:p.His231Tyr
ENST00000647301.1:c.*135C>T ENSP00000496641.1:n.*135C>T
ENST00000290846.8:c.691C>T ENSP00000290846.4:p.His231Tyr
ENST00000381019.3:c.691C>T ENSP00000370407.3:p.His231Tyr
ENST00000381021.7:c.*284C>T ENSP00000370409.3:n.*284C>T
ENST00000441818.5:c.*225C>T ENSP00000393014.1:n.*225C>T
ENST00000453630.5:c.*229C>T ENSP00000398488.1:n.*229C>T
ENST00000456595.5:c.*225C>T ENSP00000413880.1:n.*225C>T
ENST00000457572.5:c.*135C>T ENSP00000407700.1:n.*135C>T
ENST00000463785.1:n.159C>T
ENST00000479648.1:n.511C>T
ENST00000485175.5:n.651C>T
ENST00000486620.5:n.733C>T
NM_001282782.1:c.349C>T NP_001269711.1:p.His117Tyr
NM_001282783.1:c.271C>T NP_001269712.1:p.His91Tyr
NM_001282784.1:c.271C>T NP_001269713.1:p.His91Tyr
NM_001282785.1:c.691C>T NP_001269714.1:p.His231Tyr
NM_018006.4:c.691C>T NP_060476.2:p.His231Tyr
NR_104240.1:n.1000C>T
NR_104241.1:n.893C>T
XM_005261678.1:c.295C>T XP_005261735.1:p.His99Tyr
XM_005261681.1:c.295C>T XP_005261738.1:p.His99Tyr
XM_011530271.1:c.586C>T XP_011528573.1:p.His196Tyr
XM_011530272.1:c.691C>T XP_011528574.1:p.His231Tyr
XM_011530273.1:c.691C>T XP_011528575.1:p.His231Tyr
XM_011530274.1:c.349C>T XP_011528576.1:p.His117Tyr
XM_011530275.1:c.295C>T XP_011528577.1:p.His99Tyr
XM_011530271.2:c.586C>T XP_011528573.1:p.His196Tyr
XM_011530272.2:c.691C>T XP_011528574.1:p.His231Tyr
XM_011530273.2:c.691C>T XP_011528575.1:p.His231Tyr
XM_011530274.2:c.349C>T XP_011528576.1:p.His117Tyr
XM_024452260.1:c.586C>T XP_024308028.1:p.His196Tyr
XR_001755261.2:n.737C>T
XR_001755262.2:n.737C>T
NM_018006.5:c.691C>T MANE Select NP_060476.2:p.His231Tyr
NM_001282782.2:c.349C>T NP_001269711.1:p.His117Tyr
NM_001282783.2:c.271C>T NP_001269712.1:p.His91Tyr
NM_001282784.2:c.271C>T NP_001269713.1:p.His91Tyr
NM_001282785.2:c.691C>T NP_001269714.1:p.His231Tyr
NR_104240.2:n.687C>T
NR_104241.2:n.580C>T