Canonical Allele Identifier: CA235725

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253312C>T , CM000678.2:g.70253312C>T	GRCh38
NC_000016.9:g.70287215C>T , CM000678.1:g.70287215C>T	GRCh37
NC_000016.8:g.68844716C>T	NCBI36
NG_023191.1:g.41198G>A , LRG_359:g.41198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2677G>A MANE Select	ENSP00000261772.8:p.Asp893Asn
ENST00000565361.3:c.2770G>A	ENSP00000455360.3:p.Asp924Asn
ENST00000569825.2:n.1122G>A
ENST00000674512.1:c.2656G>A	ENSP00000501613.1:p.Asp886Asn
ENST00000674652.1:c.*2466G>A	ENSP00000502620.1:n.*2466G>A
ENST00000674691.1:c.2677G>A	ENSP00000502247.1:p.Asp893Asn
ENST00000674768.1:c.*1264G>A	ENSP00000501679.1:n.*1264G>A
ENST00000674811.1:c.*870G>A	ENSP00000502055.1:n.*870G>A
ENST00000674848.1:n.3058G>A
ENST00000674962.1:n.5363G>A
ENST00000674963.1:c.2677G>A	ENSP00000501924.1:p.Asp893Asn
ENST00000675035.1:c.*287G>A	ENSP00000502712.1:n.*287G>A
ENST00000675045.1:c.2704G>A	ENSP00000502014.1:p.Asp902Asn
ENST00000675120.1:c.*987G>A	ENSP00000502823.1:n.*987G>A
ENST00000675133.1:c.2650G>A	ENSP00000502230.1:p.Asp884Asn
ENST00000675270.1:n.2812G>A
ENST00000675297.1:c.*1943G>A	ENSP00000502753.1:n.*1943G>A
ENST00000675371.1:c.*619G>A	ENSP00000502645.1:n.*619G>A
ENST00000675403.1:n.3597G>A
ENST00000675569.1:c.*1911G>A	ENSP00000502534.1:n.*1911G>A
ENST00000675588.1:n.1424G>A
ENST00000675643.1:c.2677G>A	ENSP00000502797.1:p.Asp893Asn
ENST00000675691.1:c.2548G>A	ENSP00000502196.1:p.Asp850Asn
ENST00000675751.1:c.*2036G>A	ENSP00000502277.1:n.*2036G>A
ENST00000675853.1:c.2725G>A	ENSP00000502367.1:p.Asp909Asn
ENST00000675917.1:n.2974G>A
ENST00000675953.1:c.2593G>A	ENSP00000502321.1:p.Asp865Asn
ENST00000675986.1:n.3167G>A
ENST00000676004.1:c.*2676G>A	ENSP00000502765.1:n.*2676G>A
ENST00000676040.1:c.*1911G>A	ENSP00000502108.1:n.*1911G>A
ENST00000676168.1:c.*287G>A	ENSP00000502479.1:n.*287G>A
ENST00000676209.1:c.*1029G>A	ENSP00000502052.1:n.*1029G>A
ENST00000676211.1:c.*1704G>A	ENSP00000502726.1:n.*1704G>A
ENST00000676212.1:c.*366G>A	ENSP00000501853.1:n.*366G>A
ENST00000676247.1:c.*1361G>A	ENSP00000502699.1:n.*1361G>A
ENST00000261772.12:c.2677G>A	ENSP00000261772.7:p.Asp893Asn
NM_001605.2:c.2677G>A , LRG_359t1:c.2677G>A	NP_001596.2:p.Asp893Asn
XR_933220.1:n.2643G>A
XR_933220.3:n.2602G>A
NM_001605.3:c.2677G>A MANE Select	NP_001596.2:p.Asp893Asn