Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY | | ISO | IARS1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY | | ISO | IARS1 (Homo sapiens) | 7240710 | | OMIM | | |
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IARS1 (Canis lupus familiaris - dog) |
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IARS1 (Homo sapiens - human) |
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Iars1 (Mus musculus - house mouse) |
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Iars1 (Rattus norvegicus - Norway rat) |
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Iars1 (Chinchilla lanigera - long-tailed chinchilla) |
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IARS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Iars1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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IARS1 (Sus scrofa - pig) |
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IARS1 (Chlorocebus sabaeus - green monkey) |
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Iars1 (Heterocephalus glaber - naked mole-rat) |
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Variants in IARS1
621 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 5 | 5 | 14 | 6 | 6 | 6 | 12 | 6 | 10 | 6 | ||
Low | 8 | 6 | 6 | 2 | ||||||||
Below cutoff |
RefSeq Transcripts | XM_014118130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_022422371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038466673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038466674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038466675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038466676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038527394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038527395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038527396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038527397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038591693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038591694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038591695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038591696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038612048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038655487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038655488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038655489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038655490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_541332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000003663 ⟹ ENSCAFP00000003387 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000080250 ⟹ ENSCAFP00000049940 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845000164 ⟹ ENSCAFP00845000126 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845000170 ⟹ ENSCAFP00845000131 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845000175 ⟹ ENSCAFP00845000134 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_014118130 ⟹ XP_013973605 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022422371 ⟹ XP_022278079 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038466673 ⟹ XP_038322601 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038466674 ⟹ XP_038322602 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038466675 ⟹ XP_038322603 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038466676 ⟹ XP_038322604 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038527394 ⟹ XP_038383322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038527395 ⟹ XP_038383323 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038527396 ⟹ XP_038383324 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038527397 ⟹ XP_038383325 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038591693 ⟹ XP_038447621 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038591694 ⟹ XP_038447622 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038591695 ⟹ XP_038447623 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038591696 ⟹ XP_038447624 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038612048 ⟹ XP_038467976 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038655487 ⟹ XP_038511415 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038655488 ⟹ XP_038511416 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038655489 ⟹ XP_038511417 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038655490 ⟹ XP_038511418 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_541332 ⟹ XP_541332 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_013973605 | (Get FASTA) | NCBI Sequence Viewer |
XP_022278079 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038322601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038322602 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038322603 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038322604 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038383322 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038383323 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038383324 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038383325 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038447621 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038447622 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038447623 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038447624 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038467976 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038511415 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038511416 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038511417 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038511418 | (Get FASTA) | NCBI Sequence Viewer | |
XP_541332 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000003387.3 | ||
ENSCAFP00000049940.1 | |||
ENSCAFP00000071140.1 | |||
ENSCAFP00000073731.1 | |||
ENSCAFP00030001605.1 | |||
ENSCAFP00030001674.1 | |||
ENSCAFP00030001749.1 | |||
ENSCAFP00040003162.1 | |||
ENSCAFP00040003225.1 | |||
ENSCAFP00040003269.1 | |||
ENSCAFP00040003309.1 | |||
ENSCAFP00040003358.1 | |||
ENSCAFP00845000126.1 | |||
ENSCAFP00845000131 | |||
ENSCAFP00845000131.1 | |||
ENSCAFP00845000134 | |||
ENSCAFP00845000134.1 |
RefSeq Acc Id: | XP_541332 ⟸ XM_541332 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0KL72 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013973605 ⟸ XM_014118130 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0KL72 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022278079 ⟸ XM_022422371 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0PSR6 (UniProtKB/TrEMBL), A0A8I3MFF7 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000049940 ⟸ ENSCAFT00000080250 |
RefSeq Acc Id: | ENSCAFP00000003387 ⟸ ENSCAFT00000003663 |
RefSeq Acc Id: | XP_038322604 ⟸ XM_038466676 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038322602 ⟸ XM_038466674 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038322603 ⟸ XM_038466675 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038322601 ⟸ XM_038466673 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038447624 ⟸ XM_038591696 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038447622 ⟸ XM_038591694 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038447623 ⟸ XM_038591695 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038447621 ⟸ XM_038591693 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038511418 ⟸ XM_038655490 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0PSR6 (UniProtKB/TrEMBL), A0A8I3MFF7 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038511416 ⟸ XM_038655488 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0KL72 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038511417 ⟸ XM_038655489 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0KL72 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038511415 ⟸ XM_038655487 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0KL72 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038467976 ⟸ XM_038612048 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0KL72 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038383325 ⟸ XM_038527397 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0PSF6 (UniProtKB/TrEMBL), A0A8C0PSR6 (UniProtKB/TrEMBL), A0A8I3MFF7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038383323 ⟸ XM_038527395 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KL72 (UniProtKB/TrEMBL), A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038383324 ⟸ XM_038527396 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KL72 (UniProtKB/TrEMBL), A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038383322 ⟸ XM_038527394 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KL72 (UniProtKB/TrEMBL), A0A8C0M0E3 (UniProtKB/TrEMBL), A0A8C0PSF6 (UniProtKB/TrEMBL), A0A8I3M9Y6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845000131 ⟸ ENSCAFT00845000170 |
RefSeq Acc Id: | ENSCAFP00845000126 ⟸ ENSCAFT00845000164 |
RefSeq Acc Id: | ENSCAFP00845000134 ⟸ ENSCAFT00845000175 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000002340 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030001048 | UniProtKB/TrEMBL | |
ENSCAFG00040001933 | UniProtKB/TrEMBL | |
ENSCAFG00845000092 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000003663.5 | UniProtKB/TrEMBL |
ENSCAFT00000080250.2 | UniProtKB/TrEMBL | |
ENSCAFT00000100370.1 | UniProtKB/TrEMBL | |
ENSCAFT00000105469.1 | UniProtKB/TrEMBL | |
ENSCAFT00030001808.1 | UniProtKB/TrEMBL | |
ENSCAFT00030001882.1 | UniProtKB/TrEMBL | |
ENSCAFT00030001973.1 | UniProtKB/TrEMBL | |
ENSCAFT00040003686.1 | UniProtKB/TrEMBL | |
ENSCAFT00040003751.1 | UniProtKB/TrEMBL | |
ENSCAFT00040003806.1 | UniProtKB/TrEMBL | |
ENSCAFT00040003854.1 | UniProtKB/TrEMBL | |
ENSCAFT00040003911.1 | UniProtKB/TrEMBL | |
ENSCAFT00845000164.1 | UniProtKB/TrEMBL | |
ENSCAFT00845000170 | ENTREZGENE | |
ENSCAFT00845000170.1 | UniProtKB/TrEMBL | |
ENSCAFT00845000175 | ENTREZGENE | |
ENSCAFT00845000175.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.620 | UniProtKB/TrEMBL |
3.90.740.10 | UniProtKB/TrEMBL | |
InterPro | aa-tRNA-synth_I_CS | UniProtKB/TrEMBL |
aa-tRNA-synth_Ia | UniProtKB/TrEMBL | |
Anticodon_Ile_ABEc | UniProtKB/TrEMBL | |
Ile-tRNA-ligase | UniProtKB/TrEMBL | |
Ile-tRNA-ligase_type2 | UniProtKB/TrEMBL | |
M/V/L/I-tRNA-synth_anticd-bd | UniProtKB/TrEMBL | |
Rossmann-like_a/b/a_fold | UniProtKB/TrEMBL | |
tRNAsynth_Ia_anticodon-bd | UniProtKB/TrEMBL | |
Val/Leu/Ile-tRNA-synth_edit | UniProtKB/TrEMBL | |
KEGG Report | cfa:484216 | UniProtKB/TrEMBL |
NCBI Gene | IARS | ENTREZGENE |
PANTHER | ISOLEUCINE--TRNA LIGASE, CYTOPLASMIC | UniProtKB/TrEMBL |
PTHR42780 | UniProtKB/TrEMBL | |
Pfam | Anticodon_1 | UniProtKB/TrEMBL |
DUF5915 | UniProtKB/TrEMBL | |
tRNA-synt_1 | UniProtKB/TrEMBL | |
PRINTS | TRNASYNTHILE | UniProtKB/TrEMBL |
PROSITE | AA_TRNA_LIGASE_I | UniProtKB/TrEMBL |
Superfamily-SCOP | Nucleotidylyl transferase | UniProtKB/TrEMBL |
SSF47323 | UniProtKB/TrEMBL | |
SSF50677 | UniProtKB/TrEMBL | |
UniProt | A0A8C0KL72 | ENTREZGENE |
A0A8C0LU04_CANLF | UniProtKB/TrEMBL | |
A0A8C0M0E3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0M0Q7_CANLF | UniProtKB/TrEMBL | |
A0A8C0PSF6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0PSM5_CANLF | UniProtKB/TrEMBL | |
A0A8C0PSR6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3M9Y6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3MFF7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3RNX5_CANLF | UniProtKB/TrEMBL | |
A0A8P0PLH8_CANLF | UniProtKB/TrEMBL | |
UniProt Secondary | A0A8P0NZT4 | UniProtKB/TrEMBL |
VGNC ID | VGNC:41849 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-08-06 | IARS1 | isoleucyl-tRNA synthetase 1 | IARS | isoleucyl-tRNA synthetase | Symbol and/or name change | 5135510 | APPROVED |