Canonical Allele Identifier: CA8140358

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253728C>T , CM000678.2:g.70253728C>T	GRCh38
NC_000016.9:g.70287631C>T , CM000678.1:g.70287631C>T	GRCh37
NC_000016.8:g.68845132C>T	NCBI36
NG_023191.1:g.40782G>A , LRG_359:g.40782G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2593G>A MANE Select	NP_001596.2:p.Gly865Ser
ENST00000261772.13:c.2593G>A MANE Select	ENSP00000261772.8:p.Gly865Ser
NM_001605.2:c.2593G>A , LRG_359t1:c.2593G>A	NP_001596.2:p.Gly865Ser
ENST00000261772.12:c.2593G>A	ENSP00000261772.7:p.Gly865Ser
ENST00000565361.3:c.2686G>A	ENSP00000455360.3:p.Gly896Ser
ENST00000569825.1:n.599G>A
ENST00000569825.2:n.706G>A
ENST00000674512.1:c.2572G>A	ENSP00000501613.1:p.Gly858Ser
ENST00000674652.1:c.*2382G>A	ENSP00000502620.1:n.*2382G>A
ENST00000674691.1:c.2593G>A	ENSP00000502247.1:p.Gly865Ser
ENST00000674768.1:c.*848G>A	ENSP00000501679.1:n.*848G>A
ENST00000674811.1:c.*786G>A	ENSP00000502055.1:n.*786G>A
ENST00000674848.1:n.2642G>A
ENST00000674962.1:n.4947G>A
ENST00000674963.1:c.2593G>A	ENSP00000501924.1:p.Gly865Ser
ENST00000675035.1:c.*203G>A	ENSP00000502712.1:n.*203G>A
ENST00000675045.1:c.2620G>A	ENSP00000502014.1:p.Gly874Ser
ENST00000675120.1:c.*903G>A	ENSP00000502823.1:n.*903G>A
ENST00000675133.1:c.2566G>A	ENSP00000502230.1:p.Gly856Ser
ENST00000675270.1:n.2728G>A
ENST00000675297.1:c.*1527G>A	ENSP00000502753.1:n.*1527G>A
ENST00000675371.1:c.*203G>A	ENSP00000502645.1:n.*203G>A
ENST00000675403.1:n.3513G>A
ENST00000675569.1:c.*1827G>A	ENSP00000502534.1:n.*1827G>A
ENST00000675588.1:n.1340G>A
ENST00000675643.1:c.2593G>A	ENSP00000502797.1:p.Gly865Ser
ENST00000675691.1:c.2464G>A	ENSP00000502196.1:p.Gly822Ser
ENST00000675751.1:c.*1620G>A	ENSP00000502277.1:n.*1620G>A
ENST00000675853.1:c.2593G>A	ENSP00000502367.1:p.Gly865Ser
ENST00000675917.1:n.2890G>A
ENST00000675953.1:c.2509G>A	ENSP00000502321.1:p.Gly837Ser
ENST00000675986.1:n.2751G>A
ENST00000676004.1:c.*2592G>A	ENSP00000502765.1:n.*2592G>A
ENST00000676040.1:c.*1827G>A	ENSP00000502108.1:n.*1827G>A
ENST00000676168.1:c.*203G>A	ENSP00000502479.1:n.*203G>A
ENST00000676209.1:c.*945G>A	ENSP00000502052.1:n.*945G>A
ENST00000676211.1:c.*1620G>A	ENSP00000502726.1:n.*1620G>A
ENST00000676212.1:c.*282G>A	ENSP00000501853.1:n.*282G>A
ENST00000676247.1:c.*945G>A	ENSP00000502699.1:n.*945G>A
XR_933220.1:n.2559G>A
XR_933220.3:n.2518G>A