Canonical Allele Identifier: CA8140279

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252898G>A , CM000678.2:g.70252898G>A	GRCh38
NC_000016.9:g.70286801G>A , CM000678.1:g.70286801G>A	GRCh37
NC_000016.8:g.68844302G>A	NCBI36
NG_023191.1:g.41612C>T , LRG_359:g.41612C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2730C>T MANE Select	NP_001596.2:p.Ala910=
ENST00000261772.13:c.2730C>T MANE Select	ENSP00000261772.8:p.Ala910=
NM_001605.2:c.2730C>T , LRG_359t1:c.2730C>T	NP_001596.2:p.Ala910=
ENST00000261772.12:c.2730C>T	ENSP00000261772.7:p.Ala910=
ENST00000565361.3:c.2823C>T	ENSP00000455360.3:p.Ala941=
ENST00000569825.2:n.1175C>T
ENST00000674512.1:c.2709C>T	ENSP00000501613.1:p.Ala903=
ENST00000674652.1:c.*2519C>T	ENSP00000502620.1:n.*2519C>T
ENST00000674691.1:c.2730C>T	ENSP00000502247.1:p.Ala910=
ENST00000674768.1:c.*1317C>T	ENSP00000501679.1:n.*1317C>T
ENST00000674811.1:c.*923C>T	ENSP00000502055.1:n.*923C>T
ENST00000674848.1:n.3111C>T
ENST00000674962.1:n.5416C>T
ENST00000674963.1:c.2730C>T	ENSP00000501924.1:p.Ala910=
ENST00000675035.1:c.*340C>T	ENSP00000502712.1:n.*340C>T
ENST00000675045.1:c.2757C>T	ENSP00000502014.1:p.Ala919=
ENST00000675120.1:c.*1040C>T	ENSP00000502823.1:n.*1040C>T
ENST00000675133.1:c.2703C>T	ENSP00000502230.1:p.Ala901=
ENST00000675270.1:n.2865C>T
ENST00000675297.1:c.*1996C>T	ENSP00000502753.1:n.*1996C>T
ENST00000675371.1:c.*672C>T	ENSP00000502645.1:n.*672C>T
ENST00000675403.1:n.3650C>T
ENST00000675569.1:c.*1964C>T	ENSP00000502534.1:n.*1964C>T
ENST00000675588.1:n.1477C>T
ENST00000675643.1:c.2730C>T	ENSP00000502797.1:p.Ala910=
ENST00000675691.1:c.2601C>T	ENSP00000502196.1:p.Ala867=
ENST00000675751.1:c.*2089C>T	ENSP00000502277.1:n.*2089C>T
ENST00000675853.1:c.2778C>T	ENSP00000502367.1:p.Ala926=
ENST00000675917.1:n.3027C>T
ENST00000675953.1:c.2646C>T	ENSP00000502321.1:p.Ala882=
ENST00000675986.1:n.3220C>T
ENST00000676004.1:c.*2729C>T	ENSP00000502765.1:n.*2729C>T
ENST00000676040.1:c.*1964C>T	ENSP00000502108.1:n.*1964C>T
ENST00000676168.1:c.*340C>T	ENSP00000502479.1:n.*340C>T
ENST00000676209.1:c.*1082C>T	ENSP00000502052.1:n.*1082C>T
ENST00000676211.1:c.*1757C>T	ENSP00000502726.1:n.*1757C>T
ENST00000676212.1:c.*419C>T	ENSP00000501853.1:n.*419C>T
ENST00000676247.1:c.*1414C>T	ENSP00000502699.1:n.*1414C>T
XR_933220.1:n.2696C>T
XR_933220.3:n.2655C>T