Canonical Allele Identifier: CA8140300

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253253C>T , CM000678.2:g.70253253C>T	GRCh38
NC_000016.9:g.70287156C>T , CM000678.1:g.70287156C>T	GRCh37
NC_000016.8:g.68844657C>T	NCBI36
NG_023191.1:g.41257G>A , LRG_359:g.41257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2721+15G>A MANE Select	ENSP00000261772.8:n.2721+15G>A
ENST00000565361.3:c.2814+15G>A	ENSP00000455360.3:n.2814+15G>A
ENST00000569825.2:n.1166+15G>A
ENST00000674512.1:c.2700+15G>A	ENSP00000501613.1:n.2700+15G>A
ENST00000674652.1:c.*2510+15G>A	ENSP00000502620.1:n.*2510+15G>A
ENST00000674691.1:c.2721+15G>A	ENSP00000502247.1:n.2721+15G>A
ENST00000674768.1:c.*1308+15G>A	ENSP00000501679.1:n.*1308+15G>A
ENST00000674811.1:c.*914+15G>A	ENSP00000502055.1:n.*914+15G>A
ENST00000674848.1:n.3102+15G>A
ENST00000674962.1:n.5407+15G>A
ENST00000674963.1:c.2721+15G>A	ENSP00000501924.1:n.2721+15G>A
ENST00000675035.1:c.*331+15G>A	ENSP00000502712.1:n.*331+15G>A
ENST00000675045.1:c.2748+15G>A	ENSP00000502014.1:n.2748+15G>A
ENST00000675120.1:c.*1031+15G>A	ENSP00000502823.1:n.*1031+15G>A
ENST00000675133.1:c.2694+15G>A	ENSP00000502230.1:n.2694+15G>A
ENST00000675270.1:n.2856+15G>A
ENST00000675297.1:c.*1987+15G>A	ENSP00000502753.1:n.*1987+15G>A
ENST00000675371.1:c.*663+15G>A	ENSP00000502645.1:n.*663+15G>A
ENST00000675403.1:n.3641+15G>A
ENST00000675569.1:c.*1955+15G>A	ENSP00000502534.1:n.*1955+15G>A
ENST00000675588.1:n.1468+15G>A
ENST00000675643.1:c.2721+15G>A	ENSP00000502797.1:n.2721+15G>A
ENST00000675691.1:c.2592+15G>A	ENSP00000502196.1:n.2592+15G>A
ENST00000675751.1:c.*2080+15G>A	ENSP00000502277.1:n.*2080+15G>A
ENST00000675853.1:c.2769+15G>A	ENSP00000502367.1:n.2769+15G>A
ENST00000675917.1:n.3018+15G>A
ENST00000675953.1:c.2637+15G>A	ENSP00000502321.1:n.2637+15G>A
ENST00000675986.1:n.3211+15G>A
ENST00000676004.1:c.*2720+15G>A	ENSP00000502765.1:n.*2720+15G>A
ENST00000676040.1:c.*1955+15G>A	ENSP00000502108.1:n.*1955+15G>A
ENST00000676168.1:c.*331+15G>A	ENSP00000502479.1:n.*331+15G>A
ENST00000676209.1:c.*1073+15G>A	ENSP00000502052.1:n.*1073+15G>A
ENST00000676211.1:c.*1748+15G>A	ENSP00000502726.1:n.*1748+15G>A
ENST00000676212.1:c.*410+15G>A	ENSP00000501853.1:n.*410+15G>A
ENST00000676247.1:c.*1405+15G>A	ENSP00000502699.1:n.*1405+15G>A
ENST00000261772.12:c.2721+15G>A	ENSP00000261772.7:n.2721+15G>A
NM_001605.2:c.2721+15G>A , LRG_359t1:c.2721+15G>A	NP_001596.2:n.2721+15G>A
XR_933220.1:n.2687+15G>A
XR_933220.3:n.2646+15G>A
NM_001605.3:c.2721+15G>A MANE Select	NP_001596.2:n.2721+15G>A