Transcript #00001836

Transcript name alanyl-tRNA synthetase domain containing 1
Gene name AARSD1 (alanyl-tRNA synthetase domain containing 1)
Chromosome 17
Transcript - NCBI ID NM_001261434.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001248363.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-15220G>C VUS r.(?) p.(=)
./. - c.40-42_40-37del - r.(=) p.(=)
./. - c.60C>T - r.(=) p.(=)
./. - c.60C>T - r.(=) p.(=)
./. - c.172-175G>C - r.(=) p.(=)
./. - c.172-175G>C - r.(=) p.(=)
./. - c.331+78del - r.(=) p.(=)
./. - c.331+78del - r.(=) p.(=)
./. - c.794+122A>G - r.(=) p.(=)
./. - c.794+122A>G - r.(=) p.(=)
./. - c.794+154T>C - r.(=) p.(=)
./. - c.794+154T>C - r.(=) p.(=)
./. - c.954-290A>G - r.(=) p.(=)
./. - c.954-290A>G - r.(=) p.(=)
./. - c.1009-27A>G - r.(=) p.(=)
./. - c.1009-27A>G - r.(=) p.(=)
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