Canonical Allele Identifier: CA514924966
Gene: TRMU HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.46733833T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46337936T>C , CM000684.2:g.46337936T>C GRCh38
NC_000022.10:g.46733833T>C , CM000684.1:g.46733833T>C GRCh37
NC_000022.9:g.45112497T>C NCBI36
NG_012173.1:g.7536T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000465378.6:n.343T>C
ENST00000493556.2:n.316T>C
ENST00000642562.1:c.82+2090T>C ENSP00000494679.1:n.82+2090T>C
ENST00000642923.1:c.135T>C ENSP00000494255.1:p.Asp45=
ENST00000643137.1:c.135T>C ENSP00000495331.1:p.Asp45=
ENST00000644006.1:c.135T>C ENSP00000493778.1:p.Asp45=
ENST00000645026.1:n.291T>C
ENST00000645190.1:c.240T>C MANE Select ENSP00000496496.1:p.Asp80=
ENST00000647301.1:c.240T>C ENSP00000496641.1:p.Asp80=
ENST00000290846.8:c.240T>C ENSP00000290846.4:p.Asp80=
ENST00000381019.3:c.240T>C ENSP00000370407.3:p.Asp80=
ENST00000381021.7:c.240T>C ENSP00000370409.3:p.Asp80=
ENST00000441818.5:c.240T>C ENSP00000393014.1:p.Asp80=
ENST00000453630.5:c.240T>C ENSP00000398488.1:p.Asp80=
ENST00000456595.5:c.240T>C ENSP00000413880.1:p.Asp80=
ENST00000457572.5:c.240T>C ENSP00000407700.1:p.Asp80=
ENST00000465378.5:n.372T>C
ENST00000485175.5:n.307T>C
ENST00000486620.5:n.444T>C
ENST00000496831.5:n.370T>C
NM_001282782.1:c.5T>C NP_001269711.1:p.Met2Thr
NM_001282783.1:c.-15T>C NP_001269712.1:n.-15T>C
NM_001282784.1:c.-15T>C NP_001269713.1:n.-15T>C
NM_001282785.1:c.240T>C NP_001269714.1:p.Asp80=
NM_018006.4:c.240T>C NP_060476.2:p.Asp80=
NR_104240.1:n.604T>C
NR_104241.1:n.604T>C
XM_005261678.1:c.-98T>C XP_005261735.1:n.-98T>C
XM_005261681.1:c.-98T>C XP_005261738.1:n.-98T>C
XM_011530271.1:c.135T>C XP_011528573.1:p.Asp45=
XM_011530272.1:c.240T>C XP_011528574.1:p.Asp80=
XM_011530273.1:c.240T>C XP_011528575.1:p.Asp80=
XM_011530274.1:c.5T>C XP_011528576.1:p.Met2Thr
XM_011530275.1:c.-98T>C XP_011528577.1:n.-98T>C
XM_011530271.2:c.135T>C XP_011528573.1:p.Asp45=
XM_011530272.2:c.240T>C XP_011528574.1:p.Asp80=
XM_011530273.2:c.240T>C XP_011528575.1:p.Asp80=
XM_011530274.2:c.5T>C XP_011528576.1:p.Met2Thr
XM_024452260.1:c.135T>C XP_024308028.1:p.Asp45=
XR_001755261.2:n.286T>C
XR_001755262.2:n.286T>C
NM_018006.5:c.240T>C MANE Select NP_060476.2:p.Asp80=
NM_001282782.2:c.5T>C NP_001269711.1:p.Met2Thr
NM_001282783.2:c.-15T>C NP_001269712.1:n.-15T>C
NM_001282784.2:c.-15T>C NP_001269713.1:n.-15T>C
NM_001282785.2:c.240T>C NP_001269714.1:p.Asp80=
NR_104240.2:n.291T>C
NR_104241.2:n.291T>C