Canonical Allele Identifier: CA283424077

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253726G>A , CM000678.2:g.70253726G>A	GRCh38
NC_000016.9:g.70287629G>A , CM000678.1:g.70287629G>A	GRCh37
NC_000016.8:g.68845130G>A	NCBI36
NG_023191.1:g.40784C>T , LRG_359:g.40784C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2595C>T MANE Select	NP_001596.2:p.Gly865=
ENST00000261772.13:c.2595C>T MANE Select	ENSP00000261772.8:p.Gly865=
NM_001605.2:c.2595C>T , LRG_359t1:c.2595C>T	NP_001596.2:p.Gly865=
ENST00000261772.12:c.2595C>T	ENSP00000261772.7:p.Gly865=
ENST00000565361.3:c.2688C>T	ENSP00000455360.3:p.Gly896=
ENST00000569825.1:n.601C>T
ENST00000569825.2:n.708C>T
ENST00000674512.1:c.2574C>T	ENSP00000501613.1:p.Gly858=
ENST00000674652.1:c.*2384C>T	ENSP00000502620.1:n.*2384C>T
ENST00000674691.1:c.2595C>T	ENSP00000502247.1:p.Gly865=
ENST00000674768.1:c.*850C>T	ENSP00000501679.1:n.*850C>T
ENST00000674811.1:c.*788C>T	ENSP00000502055.1:n.*788C>T
ENST00000674848.1:n.2644C>T
ENST00000674962.1:n.4949C>T
ENST00000674963.1:c.2595C>T	ENSP00000501924.1:p.Gly865=
ENST00000675035.1:c.*205C>T	ENSP00000502712.1:n.*205C>T
ENST00000675045.1:c.2622C>T	ENSP00000502014.1:p.Gly874=
ENST00000675120.1:c.*905C>T	ENSP00000502823.1:n.*905C>T
ENST00000675133.1:c.2568C>T	ENSP00000502230.1:p.Gly856=
ENST00000675270.1:n.2730C>T
ENST00000675297.1:c.*1529C>T	ENSP00000502753.1:n.*1529C>T
ENST00000675371.1:c.*205C>T	ENSP00000502645.1:n.*205C>T
ENST00000675403.1:n.3515C>T
ENST00000675569.1:c.*1829C>T	ENSP00000502534.1:n.*1829C>T
ENST00000675588.1:n.1342C>T
ENST00000675643.1:c.2595C>T	ENSP00000502797.1:p.Gly865=
ENST00000675691.1:c.2466C>T	ENSP00000502196.1:p.Gly822=
ENST00000675751.1:c.*1622C>T	ENSP00000502277.1:n.*1622C>T
ENST00000675853.1:c.2595C>T	ENSP00000502367.1:p.Gly865=
ENST00000675917.1:n.2892C>T
ENST00000675953.1:c.2511C>T	ENSP00000502321.1:p.Gly837=
ENST00000675986.1:n.2753C>T
ENST00000676004.1:c.*2594C>T	ENSP00000502765.1:n.*2594C>T
ENST00000676040.1:c.*1829C>T	ENSP00000502108.1:n.*1829C>T
ENST00000676168.1:c.*205C>T	ENSP00000502479.1:n.*205C>T
ENST00000676209.1:c.*947C>T	ENSP00000502052.1:n.*947C>T
ENST00000676211.1:c.*1622C>T	ENSP00000502726.1:n.*1622C>T
ENST00000676212.1:c.*284C>T	ENSP00000501853.1:n.*284C>T
ENST00000676247.1:c.*947C>T	ENSP00000502699.1:n.*947C>T
XR_933220.1:n.2561C>T
XR_933220.3:n.2520C>T