Canonical Allele Identifier: CA323417
Gene: TRMU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46335766T>G , CM000684.2:g.46335766T>G GRCh38
NC_000022.10:g.46731663T>G , CM000684.1:g.46731663T>G GRCh37
NC_000022.9:g.45110327T>G NCBI36
NG_012173.1:g.5366T>G

Transcript Alleles

HGVS Amino-acid Change
NM_018006.5:c.2T>G MANE Select NP_060476.2:p.Met1Arg
ENST00000645190.1:c.2T>G MANE Select ENSP00000496496.1:p.Met1Arg
NM_001282782.1:c.-234T>G NP_001269711.1:n.-234T>G
NM_001282782.2:c.-234T>G NP_001269711.1:n.-234T>G
NM_001282783.1:c.-253T>G NP_001269712.1:n.-253T>G
NM_001282783.2:c.-253T>G NP_001269712.1:n.-253T>G
NM_001282784.1:c.-253T>G NP_001269713.1:n.-253T>G
NM_001282784.2:c.-253T>G NP_001269713.1:n.-253T>G
NM_001282785.1:c.2T>G NP_001269714.1:p.Met1Arg
NM_001282785.2:c.2T>G NP_001269714.1:p.Met1Arg
NM_018006.4:c.2T>G NP_060476.2:p.Met1Arg
NR_104240.1:n.366T>G
NR_104240.2:n.53T>G
NR_104241.1:n.366T>G
NR_104241.2:n.53T>G
ENST00000290846.8:c.2T>G ENSP00000290846.4:p.Met1Arg
ENST00000381019.3:c.2T>G ENSP00000370407.3:p.Met1Arg
ENST00000381021.7:c.2T>G ENSP00000370409.3:p.Met1Arg
ENST00000441818.5:c.2T>G ENSP00000393014.1:p.Met1Arg
ENST00000453630.5:c.2T>G ENSP00000398488.1:p.Met1Arg
ENST00000456595.5:c.2T>G ENSP00000413880.1:p.Met1Arg
ENST00000457572.5:c.2T>G ENSP00000407700.1:p.Met1Arg
ENST00000486620.5:n.287-2013T>G
ENST00000493556.2:n.78T>G
ENST00000642562.1:c.2T>G ENSP00000494679.1:p.Met1Arg
ENST00000645026.1:n.53T>G
ENST00000647301.1:c.2T>G ENSP00000496641.1:p.Met1Arg
XM_005261678.1:c.-336T>G XP_005261735.1:n.-336T>G
XM_005261681.1:c.-336T>G XP_005261738.1:n.-336T>G
XM_011530272.1:c.2T>G XP_011528574.1:p.Met1Arg
XM_011530272.2:c.2T>G XP_011528574.1:p.Met1Arg
XM_011530273.1:c.2T>G XP_011528575.1:p.Met1Arg
XM_011530273.2:c.2T>G XP_011528575.1:p.Met1Arg
XR_001755261.2:n.48T>G
XR_001755262.2:n.48T>G