Canonical Allele Identifier: CA396554431

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252843C>G , CM000678.2:g.70252843C>G	GRCh38
NC_000016.9:g.70286746C>G , CM000678.1:g.70286746C>G	GRCh37
NC_000016.8:g.68844247C>G	NCBI36
NG_023191.1:g.41667G>C , LRG_359:g.41667G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2785G>C MANE Select	NP_001596.2:p.Gly929Arg
ENST00000261772.13:c.2785G>C MANE Select	ENSP00000261772.8:p.Gly929Arg
NM_001605.2:c.2785G>C , LRG_359t1:c.2785G>C	NP_001596.2:p.Gly929Arg
ENST00000261772.12:c.2785G>C	ENSP00000261772.7:p.Gly929Arg
ENST00000565361.3:c.2878G>C	ENSP00000455360.3:p.Gly960Arg
ENST00000569825.2:n.1230G>C
ENST00000674512.1:c.2764G>C	ENSP00000501613.1:p.Gly922Arg
ENST00000674652.1:c.*2574G>C	ENSP00000502620.1:n.*2574G>C
ENST00000674691.1:c.2785G>C	ENSP00000502247.1:p.Gly929Arg
ENST00000674768.1:c.*1372G>C	ENSP00000501679.1:n.*1372G>C
ENST00000674811.1:c.*978G>C	ENSP00000502055.1:n.*978G>C
ENST00000674848.1:n.3166G>C
ENST00000674962.1:n.5471G>C
ENST00000674963.1:c.2785G>C	ENSP00000501924.1:p.Gly929Arg
ENST00000675035.1:c.*395G>C	ENSP00000502712.1:n.*395G>C
ENST00000675045.1:c.2812G>C	ENSP00000502014.1:p.Gly938Arg
ENST00000675120.1:c.*1095G>C	ENSP00000502823.1:n.*1095G>C
ENST00000675133.1:c.2758G>C	ENSP00000502230.1:p.Gly920Arg
ENST00000675270.1:n.2920G>C
ENST00000675297.1:c.*2051G>C	ENSP00000502753.1:n.*2051G>C
ENST00000675371.1:c.*727G>C	ENSP00000502645.1:n.*727G>C
ENST00000675403.1:n.3705G>C
ENST00000675569.1:c.*2019G>C	ENSP00000502534.1:n.*2019G>C
ENST00000675588.1:n.1532G>C
ENST00000675643.1:c.2785G>C	ENSP00000502797.1:p.Gly929Arg
ENST00000675691.1:c.2656G>C	ENSP00000502196.1:p.Gly886Arg
ENST00000675751.1:c.*2144G>C	ENSP00000502277.1:n.*2144G>C
ENST00000675853.1:c.2833G>C	ENSP00000502367.1:p.Gly945Arg
ENST00000675917.1:n.3082G>C
ENST00000675953.1:c.2701G>C	ENSP00000502321.1:p.Gly901Arg
ENST00000675986.1:n.3275G>C
ENST00000676004.1:c.*2784G>C	ENSP00000502765.1:n.*2784G>C
ENST00000676040.1:c.*2019G>C	ENSP00000502108.1:n.*2019G>C
ENST00000676168.1:c.*395G>C	ENSP00000502479.1:n.*395G>C
ENST00000676209.1:c.*1137G>C	ENSP00000502052.1:n.*1137G>C
ENST00000676211.1:c.*1812G>C	ENSP00000502726.1:n.*1812G>C
ENST00000676212.1:c.*474G>C	ENSP00000501853.1:n.*474G>C
ENST00000676247.1:c.*1469G>C	ENSP00000502699.1:n.*1469G>C
XR_933220.1:n.2751G>C
XR_933220.3:n.2710G>C