Canonical Allele Identifier: CA396554495

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252871C>T , CM000678.2:g.70252871C>T	GRCh38
NC_000016.9:g.70286774C>T , CM000678.1:g.70286774C>T	GRCh37
NC_000016.8:g.68844275C>T	NCBI36
NG_023191.1:g.41639G>A , LRG_359:g.41639G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2757G>A MANE Select	NP_001596.2:p.Trp919Ter
ENST00000261772.13:c.2757G>A MANE Select	ENSP00000261772.8:p.Trp919Ter
NM_001605.2:c.2757G>A , LRG_359t1:c.2757G>A	NP_001596.2:p.Trp919Ter
ENST00000261772.12:c.2757G>A	ENSP00000261772.7:p.Trp919Ter
ENST00000565361.3:c.2850G>A	ENSP00000455360.3:p.Trp950Ter
ENST00000569825.2:n.1202G>A
ENST00000674512.1:c.2736G>A	ENSP00000501613.1:p.Trp912Ter
ENST00000674652.1:c.*2546G>A	ENSP00000502620.1:n.*2546G>A
ENST00000674691.1:c.2757G>A	ENSP00000502247.1:p.Trp919Ter
ENST00000674768.1:c.*1344G>A	ENSP00000501679.1:n.*1344G>A
ENST00000674811.1:c.*950G>A	ENSP00000502055.1:n.*950G>A
ENST00000674848.1:n.3138G>A
ENST00000674962.1:n.5443G>A
ENST00000674963.1:c.2757G>A	ENSP00000501924.1:p.Trp919Ter
ENST00000675035.1:c.*367G>A	ENSP00000502712.1:n.*367G>A
ENST00000675045.1:c.2784G>A	ENSP00000502014.1:p.Trp928Ter
ENST00000675120.1:c.*1067G>A	ENSP00000502823.1:n.*1067G>A
ENST00000675133.1:c.2730G>A	ENSP00000502230.1:p.Trp910Ter
ENST00000675270.1:n.2892G>A
ENST00000675297.1:c.*2023G>A	ENSP00000502753.1:n.*2023G>A
ENST00000675371.1:c.*699G>A	ENSP00000502645.1:n.*699G>A
ENST00000675403.1:n.3677G>A
ENST00000675569.1:c.*1991G>A	ENSP00000502534.1:n.*1991G>A
ENST00000675588.1:n.1504G>A
ENST00000675643.1:c.2757G>A	ENSP00000502797.1:p.Trp919Ter
ENST00000675691.1:c.2628G>A	ENSP00000502196.1:p.Trp876Ter
ENST00000675751.1:c.*2116G>A	ENSP00000502277.1:n.*2116G>A
ENST00000675853.1:c.2805G>A	ENSP00000502367.1:p.Trp935Ter
ENST00000675917.1:n.3054G>A
ENST00000675953.1:c.2673G>A	ENSP00000502321.1:p.Trp891Ter
ENST00000675986.1:n.3247G>A
ENST00000676004.1:c.*2756G>A	ENSP00000502765.1:n.*2756G>A
ENST00000676040.1:c.*1991G>A	ENSP00000502108.1:n.*1991G>A
ENST00000676168.1:c.*367G>A	ENSP00000502479.1:n.*367G>A
ENST00000676209.1:c.*1109G>A	ENSP00000502052.1:n.*1109G>A
ENST00000676211.1:c.*1784G>A	ENSP00000502726.1:n.*1784G>A
ENST00000676212.1:c.*446G>A	ENSP00000501853.1:n.*446G>A
ENST00000676247.1:c.*1441G>A	ENSP00000502699.1:n.*1441G>A
XR_933220.1:n.2723G>A
XR_933220.3:n.2682G>A