Canonical Allele Identifier: CA396555191

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253933C>T , CM000678.2:g.70253933C>T	GRCh38
NC_000016.9:g.70287836C>T , CM000678.1:g.70287836C>T	GRCh37
NC_000016.8:g.68845337C>T	NCBI36
NG_023191.1:g.40577G>A , LRG_359:g.40577G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2506G>A MANE Select	NP_001596.2:p.Asp836Asn
ENST00000261772.13:c.2506G>A MANE Select	ENSP00000261772.8:p.Asp836Asn
NM_001605.2:c.2506G>A , LRG_359t1:c.2506G>A	NP_001596.2:p.Asp836Asn
ENST00000261772.12:c.2506G>A	ENSP00000261772.7:p.Asp836Asn
ENST00000565361.3:c.2599G>A	ENSP00000455360.3:p.Asp867Asn
ENST00000569825.1:n.512G>A
ENST00000569825.2:n.619G>A
ENST00000674512.1:c.2485G>A	ENSP00000501613.1:p.Asp829Asn
ENST00000674652.1:c.*2295G>A	ENSP00000502620.1:n.*2295G>A
ENST00000674691.1:c.2506G>A	ENSP00000502247.1:p.Asp836Asn
ENST00000674768.1:c.*761G>A	ENSP00000501679.1:n.*761G>A
ENST00000674811.1:c.*699G>A	ENSP00000502055.1:n.*699G>A
ENST00000674848.1:n.2555G>A
ENST00000674962.1:n.4860G>A
ENST00000674963.1:c.2506G>A	ENSP00000501924.1:p.Asp836Asn
ENST00000675035.1:c.*116G>A	ENSP00000502712.1:n.*116G>A
ENST00000675045.1:c.2533G>A	ENSP00000502014.1:p.Asp845Asn
ENST00000675120.1:c.*816G>A	ENSP00000502823.1:n.*816G>A
ENST00000675133.1:c.2479G>A	ENSP00000502230.1:p.Asp827Asn
ENST00000675270.1:n.2641G>A
ENST00000675297.1:c.*1440G>A	ENSP00000502753.1:n.*1440G>A
ENST00000675371.1:c.*116G>A	ENSP00000502645.1:n.*116G>A
ENST00000675403.1:n.3426G>A
ENST00000675569.1:c.*1740G>A	ENSP00000502534.1:n.*1740G>A
ENST00000675588.1:n.1253G>A
ENST00000675643.1:c.2506G>A	ENSP00000502797.1:p.Asp836Asn
ENST00000675691.1:c.2377G>A	ENSP00000502196.1:p.Asp793Asn
ENST00000675751.1:c.*1533G>A	ENSP00000502277.1:n.*1533G>A
ENST00000675853.1:c.2506G>A	ENSP00000502367.1:p.Asp836Asn
ENST00000675917.1:n.2803G>A
ENST00000675953.1:c.2422G>A	ENSP00000502321.1:p.Asp808Asn
ENST00000675986.1:n.2664G>A
ENST00000676004.1:c.*2505G>A	ENSP00000502765.1:n.*2505G>A
ENST00000676040.1:c.*1740G>A	ENSP00000502108.1:n.*1740G>A
ENST00000676168.1:c.*116G>A	ENSP00000502479.1:n.*116G>A
ENST00000676209.1:c.*858G>A	ENSP00000502052.1:n.*858G>A
ENST00000676211.1:c.*1533G>A	ENSP00000502726.1:n.*1533G>A
ENST00000676212.1:c.*195G>A	ENSP00000501853.1:n.*195G>A
ENST00000676247.1:c.*858G>A	ENSP00000502699.1:n.*858G>A
XR_933220.1:n.2472G>A
XR_933220.3:n.2431G>A