Transcript #00000272

Transcript name histidyl-tRNA synthetase
Gene name HARS (histidyl-tRNA synthetase)
Chromosome 5
Transcript - NCBI ID NM_002109.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002100.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-5646396_*16225318dup - - -
?/? 1 c.14C>A - r.14c>a p.Ala5Glu
+?/. - c.395C>T ACMG: 4 r.(?) p.Thr132Ile
+/? 4 c.410G>A - r.410g>a p.Arg137Gln
+?/. - c.581T>C VUS r.(?) p.(Ile194Thr)
?/? 5 c.605G>A - r.605g>a p.Gly205Asp
?/? 7 c.713T>C - r.713u>c p.Val238Ala
?/? 9 c.1127A>G - r.1127a>g p.Lys376Arg
?/? 12 c.1513C>T - r.1513c>u p.Pro505Ser
Legend