Canonical Allele Identifier: CA396554647

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253295C>A , CM000678.2:g.70253295C>A	GRCh38
NC_000016.9:g.70287198C>A , CM000678.1:g.70287198C>A	GRCh37
NC_000016.8:g.68844699C>A	NCBI36
NG_023191.1:g.41215G>T , LRG_359:g.41215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2694G>T MANE Select	ENSP00000261772.8:p.Lys898Asn
ENST00000565361.3:c.2787G>T	ENSP00000455360.3:p.Lys929Asn
ENST00000569825.2:n.1139G>T
ENST00000674512.1:c.2673G>T	ENSP00000501613.1:p.Lys891Asn
ENST00000674652.1:c.*2483G>T	ENSP00000502620.1:n.*2483G>T
ENST00000674691.1:c.2694G>T	ENSP00000502247.1:p.Lys898Asn
ENST00000674768.1:c.*1281G>T	ENSP00000501679.1:n.*1281G>T
ENST00000674811.1:c.*887G>T	ENSP00000502055.1:n.*887G>T
ENST00000674848.1:n.3075G>T
ENST00000674962.1:n.5380G>T
ENST00000674963.1:c.2694G>T	ENSP00000501924.1:p.Lys898Asn
ENST00000675035.1:c.*304G>T	ENSP00000502712.1:n.*304G>T
ENST00000675045.1:c.2721G>T	ENSP00000502014.1:p.Lys907Asn
ENST00000675120.1:c.*1004G>T	ENSP00000502823.1:n.*1004G>T
ENST00000675133.1:c.2667G>T	ENSP00000502230.1:p.Lys889Asn
ENST00000675270.1:n.2829G>T
ENST00000675297.1:c.*1960G>T	ENSP00000502753.1:n.*1960G>T
ENST00000675371.1:c.*636G>T	ENSP00000502645.1:n.*636G>T
ENST00000675403.1:n.3614G>T
ENST00000675569.1:c.*1928G>T	ENSP00000502534.1:n.*1928G>T
ENST00000675588.1:n.1441G>T
ENST00000675643.1:c.2694G>T	ENSP00000502797.1:p.Lys898Asn
ENST00000675691.1:c.2565G>T	ENSP00000502196.1:p.Lys855Asn
ENST00000675751.1:c.*2053G>T	ENSP00000502277.1:n.*2053G>T
ENST00000675853.1:c.2742G>T	ENSP00000502367.1:p.Lys914Asn
ENST00000675917.1:n.2991G>T
ENST00000675953.1:c.2610G>T	ENSP00000502321.1:p.Lys870Asn
ENST00000675986.1:n.3184G>T
ENST00000676004.1:c.*2693G>T	ENSP00000502765.1:n.*2693G>T
ENST00000676040.1:c.*1928G>T	ENSP00000502108.1:n.*1928G>T
ENST00000676168.1:c.*304G>T	ENSP00000502479.1:n.*304G>T
ENST00000676209.1:c.*1046G>T	ENSP00000502052.1:n.*1046G>T
ENST00000676211.1:c.*1721G>T	ENSP00000502726.1:n.*1721G>T
ENST00000676212.1:c.*383G>T	ENSP00000501853.1:n.*383G>T
ENST00000676247.1:c.*1378G>T	ENSP00000502699.1:n.*1378G>T
ENST00000261772.12:c.2694G>T	ENSP00000261772.7:p.Lys898Asn
NM_001605.2:c.2694G>T , LRG_359t1:c.2694G>T	NP_001596.2:p.Lys898Asn
XR_933220.1:n.2660G>T
XR_933220.3:n.2619G>T
NM_001605.3:c.2694G>T MANE Select	NP_001596.2:p.Lys898Asn