Canonical Allele Identifier: CA283423521

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252590C>T , CM000678.2:g.70252590C>T	GRCh38
NC_000016.9:g.70286493C>T , CM000678.1:g.70286493C>T	GRCh37
NC_000016.8:g.68843994C>T	NCBI36
NG_023191.1:g.41920G>A , LRG_359:g.41920G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.*131G>A MANE Select	NP_001596.2:n.*131G>A
ENST00000261772.13:c.*131G>A MANE Select	ENSP00000261772.8:n.*131G>A
NM_001605.2:c.*131G>A , LRG_359t1:c.*131G>A	NP_001596.2:n.*131G>A
ENST00000261772.12:c.*131G>A	ENSP00000261772.7:n.*131G>A
ENST00000565361.3:c.*131G>A	ENSP00000455360.3:n.*131G>A
ENST00000569825.2:n.1483G>A
ENST00000674512.1:c.*131G>A	ENSP00000501613.1:n.*131G>A
ENST00000674652.1:c.*2827G>A	ENSP00000502620.1:n.*2827G>A
ENST00000674691.1:c.*131G>A	ENSP00000502247.1:n.*131G>A
ENST00000674768.1:c.*1625G>A	ENSP00000501679.1:n.*1625G>A
ENST00000674811.1:c.*1231G>A	ENSP00000502055.1:n.*1231G>A
ENST00000674848.1:n.3419G>A
ENST00000674962.1:n.5724G>A
ENST00000674963.1:c.*131G>A	ENSP00000501924.1:n.*131G>A
ENST00000675035.1:c.*648G>A	ENSP00000502712.1:n.*648G>A
ENST00000675045.1:c.*131G>A	ENSP00000502014.1:n.*131G>A
ENST00000675120.1:c.*1348G>A	ENSP00000502823.1:n.*1348G>A
ENST00000675133.1:c.*131G>A	ENSP00000502230.1:n.*131G>A
ENST00000675270.1:n.3173G>A
ENST00000675297.1:c.*2304G>A	ENSP00000502753.1:n.*2304G>A
ENST00000675371.1:c.*980G>A	ENSP00000502645.1:n.*980G>A
ENST00000675403.1:n.3958G>A
ENST00000675569.1:c.*2272G>A	ENSP00000502534.1:n.*2272G>A
ENST00000675588.1:n.1785G>A
ENST00000675643.1:c.*131G>A	ENSP00000502797.1:n.*131G>A
ENST00000675691.1:c.*131G>A	ENSP00000502196.1:n.*131G>A
ENST00000675751.1:c.*2397G>A	ENSP00000502277.1:n.*2397G>A
ENST00000675853.1:c.*131G>A	ENSP00000502367.1:n.*131G>A
ENST00000675917.1:n.3335G>A
ENST00000675953.1:c.*131G>A	ENSP00000502321.1:n.*131G>A
ENST00000675986.1:n.3528G>A
ENST00000676004.1:c.*3037G>A	ENSP00000502765.1:n.*3037G>A
ENST00000676040.1:c.*2272G>A	ENSP00000502108.1:n.*2272G>A
ENST00000676168.1:c.*648G>A	ENSP00000502479.1:n.*648G>A
ENST00000676209.1:c.*1390G>A	ENSP00000502052.1:n.*1390G>A
ENST00000676211.1:c.*2065G>A	ENSP00000502726.1:n.*2065G>A
ENST00000676212.1:c.*727G>A	ENSP00000501853.1:n.*727G>A
ENST00000676247.1:c.*1722G>A	ENSP00000502699.1:n.*1722G>A
XR_933220.1:n.3004G>A
XR_933220.3:n.2963G>A