Canonical Allele Identifier: CA8140393

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253934G>A , CM000678.2:g.70253934G>A	GRCh38
NC_000016.9:g.70287837G>A , CM000678.1:g.70287837G>A	GRCh37
NC_000016.8:g.68845338G>A	NCBI36
NG_023191.1:g.40576C>T , LRG_359:g.40576C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2505C>T MANE Select	NP_001596.2:p.Ala835=
ENST00000261772.13:c.2505C>T MANE Select	ENSP00000261772.8:p.Ala835=
NM_001605.2:c.2505C>T , LRG_359t1:c.2505C>T	NP_001596.2:p.Ala835=
ENST00000261772.12:c.2505C>T	ENSP00000261772.7:p.Ala835=
ENST00000565361.3:c.2598C>T	ENSP00000455360.3:p.Ala866=
ENST00000569825.1:n.511C>T
ENST00000569825.2:n.618C>T
ENST00000674512.1:c.2484C>T	ENSP00000501613.1:p.Ala828=
ENST00000674652.1:c.*2294C>T	ENSP00000502620.1:n.*2294C>T
ENST00000674691.1:c.2505C>T	ENSP00000502247.1:p.Ala835=
ENST00000674768.1:c.*760C>T	ENSP00000501679.1:n.*760C>T
ENST00000674811.1:c.*698C>T	ENSP00000502055.1:n.*698C>T
ENST00000674848.1:n.2554C>T
ENST00000674962.1:n.4859C>T
ENST00000674963.1:c.2505C>T	ENSP00000501924.1:p.Ala835=
ENST00000675035.1:c.*115C>T	ENSP00000502712.1:n.*115C>T
ENST00000675045.1:c.2532C>T	ENSP00000502014.1:p.Ala844=
ENST00000675120.1:c.*815C>T	ENSP00000502823.1:n.*815C>T
ENST00000675133.1:c.2478C>T	ENSP00000502230.1:p.Ala826=
ENST00000675270.1:n.2640C>T
ENST00000675297.1:c.*1439C>T	ENSP00000502753.1:n.*1439C>T
ENST00000675371.1:c.*115C>T	ENSP00000502645.1:n.*115C>T
ENST00000675403.1:n.3425C>T
ENST00000675569.1:c.*1739C>T	ENSP00000502534.1:n.*1739C>T
ENST00000675588.1:n.1252C>T
ENST00000675643.1:c.2505C>T	ENSP00000502797.1:p.Ala835=
ENST00000675691.1:c.2376C>T	ENSP00000502196.1:p.Ala792=
ENST00000675751.1:c.*1532C>T	ENSP00000502277.1:n.*1532C>T
ENST00000675853.1:c.2505C>T	ENSP00000502367.1:p.Ala835=
ENST00000675917.1:n.2802C>T
ENST00000675953.1:c.2421C>T	ENSP00000502321.1:p.Ala807=
ENST00000675986.1:n.2663C>T
ENST00000676004.1:c.*2504C>T	ENSP00000502765.1:n.*2504C>T
ENST00000676040.1:c.*1739C>T	ENSP00000502108.1:n.*1739C>T
ENST00000676168.1:c.*115C>T	ENSP00000502479.1:n.*115C>T
ENST00000676209.1:c.*857C>T	ENSP00000502052.1:n.*857C>T
ENST00000676211.1:c.*1532C>T	ENSP00000502726.1:n.*1532C>T
ENST00000676212.1:c.*194C>T	ENSP00000501853.1:n.*194C>T
ENST00000676247.1:c.*857C>T	ENSP00000502699.1:n.*857C>T
XR_933220.1:n.2471C>T
XR_933220.3:n.2430C>T