Canonical Allele Identifier: CA16608680
Community Standard Title: NM_018006.5(TRMU):c.248+19A>C
Gene: TRMU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46337963A>C , CM000684.2:g.46337963A>C GRCh38
NC_000022.10:g.46733860A>C , CM000684.1:g.46733860A>C GRCh37
NC_000022.9:g.45112524A>C NCBI36
NG_012173.1:g.7563A>C

Transcript Alleles

HGVS Amino-acid Change
NM_018006.5:c.248+19A>C MANE Select NP_060476.2:n.248+19A>C
ENST00000645190.1:c.248+19A>C MANE Select ENSP00000496496.1:n.248+19A>C
NM_001282782.1:c.13+19A>C NP_001269711.1:n.13+19A>C
NM_001282782.2:c.13+19A>C NP_001269711.1:n.13+19A>C
NM_001282783.1:c.-7+19A>C NP_001269712.1:n.-7+19A>C
NM_001282783.2:c.-7+19A>C NP_001269712.1:n.-7+19A>C
NM_001282784.1:c.-7+19A>C NP_001269713.1:n.-7+19A>C
NM_001282784.2:c.-7+19A>C NP_001269713.1:n.-7+19A>C
NM_001282785.1:c.248+19A>C NP_001269714.1:n.248+19A>C
NM_001282785.2:c.248+19A>C NP_001269714.1:n.248+19A>C
NM_018006.4:c.248+19A>C NP_060476.2:n.248+19A>C
NR_104240.1:n.612+19A>C
NR_104240.2:n.299+19A>C
NR_104241.1:n.612+19A>C
NR_104241.2:n.299+19A>C
ENST00000290846.8:c.248+19A>C ENSP00000290846.4:n.248+19A>C
ENST00000381019.3:c.248+19A>C ENSP00000370407.3:n.248+19A>C
ENST00000381021.7:c.248+19A>C ENSP00000370409.3:n.248+19A>C
ENST00000441818.5:c.248+19A>C ENSP00000393014.1:n.248+19A>C
ENST00000453630.5:c.248+19A>C ENSP00000398488.1:n.248+19A>C
ENST00000456595.5:c.248+19A>C ENSP00000413880.1:n.248+19A>C
ENST00000457572.5:c.248+19A>C ENSP00000407700.1:n.248+19A>C
ENST00000465378.5:n.380+19A>C
ENST00000465378.6:n.351+19A>C
ENST00000485175.5:n.315+19A>C
ENST00000486620.5:n.452+19A>C
ENST00000493556.2:n.343A>C
ENST00000496831.5:n.378+19A>C
ENST00000642562.1:c.82+2117A>C ENSP00000494679.1:n.82+2117A>C
ENST00000642923.1:c.143+19A>C ENSP00000494255.1:n.143+19A>C
ENST00000643137.1:c.143+19A>C ENSP00000495331.1:n.143+19A>C
ENST00000644006.1:c.143+19A>C ENSP00000493778.1:n.143+19A>C
ENST00000645026.1:n.299+19A>C
ENST00000647301.1:c.248+19A>C ENSP00000496641.1:n.248+19A>C
XM_005261678.1:c.-90+19A>C XP_005261735.1:n.-90+19A>C
XM_005261681.1:c.-90+19A>C XP_005261738.1:n.-90+19A>C
XM_011530271.1:c.143+19A>C XP_011528573.1:n.143+19A>C
XM_011530271.2:c.143+19A>C XP_011528573.1:n.143+19A>C
XM_011530272.1:c.248+19A>C XP_011528574.1:n.248+19A>C
XM_011530272.2:c.248+19A>C XP_011528574.1:n.248+19A>C
XM_011530273.1:c.248+19A>C XP_011528575.1:n.248+19A>C
XM_011530273.2:c.248+19A>C XP_011528575.1:n.248+19A>C
XM_011530274.1:c.13+19A>C XP_011528576.1:n.13+19A>C
XM_011530274.2:c.13+19A>C XP_011528576.1:n.13+19A>C
XM_011530275.1:c.-90+19A>C XP_011528577.1:n.-90+19A>C
XM_024452260.1:c.143+19A>C XP_024308028.1:n.143+19A>C
XR_001755261.2:n.294+19A>C
XR_001755262.2:n.294+19A>C