Canonical Allele Identifier: CA2230658724
Community Standard Title: NM_001605.3(AARS1):c.2333A= (p.Glu778=)
Gene: AARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70254688T= , CM000678.2:g.70254688T= GRCh38
NC_000016.9:g.70288591T= , CM000678.1:g.70288591T= GRCh37
NC_000016.8:g.68846092T= NCBI36
NG_023191.1:g.39822A= , LRG_359:g.39822A=

Transcript Alleles

HGVS Amino-acid Change
NM_001605.3:c.2333A= MANE Select NP_001596.2:p.Glu778=
ENST00000261772.13:c.2333A= MANE Select ENSP00000261772.8:p.Glu778=
NM_001605.2:c.2333A= , LRG_359t1:c.2333A= NP_001596.2:p.Glu778=
ENST00000261772.12:c.2333A= ENSP00000261772.7:p.Glu778=
ENST00000565361.2:c.678A=
ENST00000565361.3:c.2333A= ENSP00000455360.3:p.Glu778=
ENST00000569825.1:n.339A=
ENST00000569825.2:n.446A=
ENST00000674512.1:c.2312A= ENSP00000501613.1:p.Glu771=
ENST00000674652.1:c.*2122A= ENSP00000502620.1:n.*2122A=
ENST00000674691.1:c.2333A= ENSP00000502247.1:p.Glu778=
ENST00000674768.1:c.*588A= ENSP00000501679.1:n.*588A=
ENST00000674811.1:c.*526A= ENSP00000502055.1:n.*526A=
ENST00000674848.1:n.2382A=
ENST00000674962.1:n.4687A=
ENST00000674963.1:c.2333A= ENSP00000501924.1:p.Glu778=
ENST00000675035.1:c.2313A= ENSP00000502712.1:p.Gly771=
ENST00000675045.1:c.2360A= ENSP00000502014.1:p.Glu787=
ENST00000675120.1:c.*643A= ENSP00000502823.1:n.*643A=
ENST00000675133.1:c.2306A= ENSP00000502230.1:p.Glu769=
ENST00000675270.1:n.2468A=
ENST00000675297.1:c.*685A= ENSP00000502753.1:n.*685A=
ENST00000675371.1:c.2148A= ENSP00000502645.1:p.Gly716=
ENST00000675403.1:n.3253A=
ENST00000675569.1:c.*1567A= ENSP00000502534.1:n.*1567A=
ENST00000675588.1:n.498A=
ENST00000675643.1:c.2333A= ENSP00000502797.1:p.Glu778=
ENST00000675691.1:c.2204A= ENSP00000502196.1:p.Glu735=
ENST00000675751.1:c.*1360A= ENSP00000502277.1:n.*1360A=
ENST00000675853.1:c.2333A= ENSP00000502367.1:p.Glu778=
ENST00000675917.1:n.2630A=
ENST00000675953.1:c.2249A= ENSP00000502321.1:p.Glu750=
ENST00000675986.1:n.2491A=
ENST00000676004.1:c.*2332A= ENSP00000502765.1:n.*2332A=
ENST00000676040.1:c.*1567A= ENSP00000502108.1:n.*1567A=
ENST00000676065.1:n.650A=
ENST00000676168.1:c.2148A= ENSP00000502479.1:p.Gly716=
ENST00000676209.1:c.*685A= ENSP00000502052.1:n.*685A=
ENST00000676211.1:c.*1360A= ENSP00000502726.1:n.*1360A=
ENST00000676212.1:c.*22A= ENSP00000501853.1:n.*22A=
ENST00000676247.1:c.*685A= ENSP00000502699.1:n.*685A=
XR_933220.1:n.2299A=
XR_933220.3:n.2258A=