Canonical Allele Identifier: CA396554353

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252806G>A , CM000678.2:g.70252806G>A	GRCh38
NC_000016.9:g.70286709G>A , CM000678.1:g.70286709G>A	GRCh37
NC_000016.8:g.68844210G>A	NCBI36
NG_023191.1:g.41704C>T , LRG_359:g.41704C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2822C>T MANE Select	NP_001596.2:p.Thr941Ile
ENST00000261772.13:c.2822C>T MANE Select	ENSP00000261772.8:p.Thr941Ile
NM_001605.2:c.2822C>T , LRG_359t1:c.2822C>T	NP_001596.2:p.Thr941Ile
ENST00000261772.12:c.2822C>T	ENSP00000261772.7:p.Thr941Ile
ENST00000565361.3:c.2915C>T	ENSP00000455360.3:p.Thr972Ile
ENST00000569825.2:n.1267C>T
ENST00000674512.1:c.2801C>T	ENSP00000501613.1:p.Thr934Ile
ENST00000674652.1:c.*2611C>T	ENSP00000502620.1:n.*2611C>T
ENST00000674691.1:c.2822C>T	ENSP00000502247.1:p.Thr941Ile
ENST00000674768.1:c.*1409C>T	ENSP00000501679.1:n.*1409C>T
ENST00000674811.1:c.*1015C>T	ENSP00000502055.1:n.*1015C>T
ENST00000674848.1:n.3203C>T
ENST00000674962.1:n.5508C>T
ENST00000674963.1:c.2822C>T	ENSP00000501924.1:p.Thr941Ile
ENST00000675035.1:c.*432C>T	ENSP00000502712.1:n.*432C>T
ENST00000675045.1:c.2849C>T	ENSP00000502014.1:p.Thr950Ile
ENST00000675120.1:c.*1132C>T	ENSP00000502823.1:n.*1132C>T
ENST00000675133.1:c.2795C>T	ENSP00000502230.1:p.Thr932Ile
ENST00000675270.1:n.2957C>T
ENST00000675297.1:c.*2088C>T	ENSP00000502753.1:n.*2088C>T
ENST00000675371.1:c.*764C>T	ENSP00000502645.1:n.*764C>T
ENST00000675403.1:n.3742C>T
ENST00000675569.1:c.*2056C>T	ENSP00000502534.1:n.*2056C>T
ENST00000675588.1:n.1569C>T
ENST00000675643.1:c.2822C>T	ENSP00000502797.1:p.Thr941Ile
ENST00000675691.1:c.2693C>T	ENSP00000502196.1:p.Thr898Ile
ENST00000675751.1:c.*2181C>T	ENSP00000502277.1:n.*2181C>T
ENST00000675853.1:c.2870C>T	ENSP00000502367.1:p.Thr957Ile
ENST00000675917.1:n.3119C>T
ENST00000675953.1:c.2738C>T	ENSP00000502321.1:p.Thr913Ile
ENST00000675986.1:n.3312C>T
ENST00000676004.1:c.*2821C>T	ENSP00000502765.1:n.*2821C>T
ENST00000676040.1:c.*2056C>T	ENSP00000502108.1:n.*2056C>T
ENST00000676168.1:c.*432C>T	ENSP00000502479.1:n.*432C>T
ENST00000676209.1:c.*1174C>T	ENSP00000502052.1:n.*1174C>T
ENST00000676211.1:c.*1849C>T	ENSP00000502726.1:n.*1849C>T
ENST00000676212.1:c.*511C>T	ENSP00000501853.1:n.*511C>T
ENST00000676247.1:c.*1506C>T	ENSP00000502699.1:n.*1506C>T
XR_933220.1:n.2788C>T
XR_933220.3:n.2747C>T