Canonical Allele Identifier: CA396554736

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253336T>C , CM000678.2:g.70253336T>C	GRCh38
NC_000016.9:g.70287239T>C , CM000678.1:g.70287239T>C	GRCh37
NC_000016.8:g.68844740T>C	NCBI36
NG_023191.1:g.41174A>G , LRG_359:g.41174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2653A>G MANE Select	ENSP00000261772.8:p.Thr885Ala
ENST00000565361.3:c.2746A>G	ENSP00000455360.3:p.Thr916Ala
ENST00000569825.2:n.1098A>G
ENST00000674512.1:c.2632A>G	ENSP00000501613.1:p.Thr878Ala
ENST00000674652.1:c.*2442A>G	ENSP00000502620.1:n.*2442A>G
ENST00000674691.1:c.2653A>G	ENSP00000502247.1:p.Thr885Ala
ENST00000674768.1:c.*1240A>G	ENSP00000501679.1:n.*1240A>G
ENST00000674811.1:c.*846A>G	ENSP00000502055.1:n.*846A>G
ENST00000674848.1:n.3034A>G
ENST00000674962.1:n.5339A>G
ENST00000674963.1:c.2653A>G	ENSP00000501924.1:p.Thr885Ala
ENST00000675035.1:c.*263A>G	ENSP00000502712.1:n.*263A>G
ENST00000675045.1:c.2680A>G	ENSP00000502014.1:p.Thr894Ala
ENST00000675120.1:c.*963A>G	ENSP00000502823.1:n.*963A>G
ENST00000675133.1:c.2626A>G	ENSP00000502230.1:p.Thr876Ala
ENST00000675270.1:n.2788A>G
ENST00000675297.1:c.*1919A>G	ENSP00000502753.1:n.*1919A>G
ENST00000675371.1:c.*595A>G	ENSP00000502645.1:n.*595A>G
ENST00000675403.1:n.3573A>G
ENST00000675569.1:c.*1887A>G	ENSP00000502534.1:n.*1887A>G
ENST00000675588.1:n.1400A>G
ENST00000675643.1:c.2653A>G	ENSP00000502797.1:p.Thr885Ala
ENST00000675691.1:c.2524A>G	ENSP00000502196.1:p.Thr842Ala
ENST00000675751.1:c.*2012A>G	ENSP00000502277.1:n.*2012A>G
ENST00000675853.1:c.2701A>G	ENSP00000502367.1:p.Thr901Ala
ENST00000675917.1:n.2950A>G
ENST00000675953.1:c.2569A>G	ENSP00000502321.1:p.Thr857Ala
ENST00000675986.1:n.3143A>G
ENST00000676004.1:c.*2652A>G	ENSP00000502765.1:n.*2652A>G
ENST00000676040.1:c.*1887A>G	ENSP00000502108.1:n.*1887A>G
ENST00000676168.1:c.*263A>G	ENSP00000502479.1:n.*263A>G
ENST00000676209.1:c.*1005A>G	ENSP00000502052.1:n.*1005A>G
ENST00000676211.1:c.*1680A>G	ENSP00000502726.1:n.*1680A>G
ENST00000676212.1:c.*342A>G	ENSP00000501853.1:n.*342A>G
ENST00000676247.1:c.*1337A>G	ENSP00000502699.1:n.*1337A>G
ENST00000261772.12:c.2653A>G	ENSP00000261772.7:p.Thr885Ala
NM_001605.2:c.2653A>G , LRG_359t1:c.2653A>G	NP_001596.2:p.Thr885Ala
XR_933220.1:n.2619A>G
XR_933220.3:n.2578A>G
NM_001605.3:c.2653A>G MANE Select	NP_001596.2:p.Thr885Ala