Canonical Allele Identifier: CA259750
Gene: AARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30155
ClinVar RCV Id: RCV000023068
dbSNP Id: rs387906792

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70277088T>A , CM000678.2:g.70277088T>A GRCh38
NC_000016.9:g.70310991T>A , CM000678.1:g.70310991T>A GRCh37
NC_000016.8:g.68868492T>A NCBI36
NG_023191.1:g.17422A>T , LRG_359:g.17422A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261772.13:c.211A>T MANE Select ENSP00000261772.8:p.Asn71Tyr
ENST00000564359.6:n.369A>T
ENST00000565361.3:c.211A>T ENSP00000455360.3:p.Asn71Tyr
ENST00000674512.1:c.211A>T ENSP00000501613.1:p.Asn71Tyr
ENST00000674652.1:c.211A>T ENSP00000502620.1:p.Asn71Tyr
ENST00000674691.1:c.211A>T ENSP00000502247.1:p.Asn71Tyr
ENST00000674768.1:c.211A>T ENSP00000501679.1:p.Asn71Tyr
ENST00000674811.1:c.211A>T ENSP00000502055.1:p.Asn71Tyr
ENST00000674848.1:n.260A>T
ENST00000674962.1:n.369A>T
ENST00000674963.1:c.211A>T ENSP00000501924.1:p.Asn71Tyr
ENST00000675035.1:c.211A>T ENSP00000502712.1:p.Asn71Tyr
ENST00000675045.1:c.211A>T ENSP00000502014.1:p.Asn71Tyr
ENST00000675120.1:c.211A>T ENSP00000502823.1:p.Asn71Tyr
ENST00000675133.1:c.211A>T ENSP00000502230.1:p.Asn71Tyr
ENST00000675270.1:n.491A>T
ENST00000675297.1:c.211A>T ENSP00000502753.1:p.Asn71Tyr
ENST00000675338.1:n.367A>T
ENST00000675371.1:c.211A>T ENSP00000502645.1:p.Asn71Tyr
ENST00000675403.1:n.369A>T
ENST00000675569.1:c.211A>T ENSP00000502534.1:p.Asn71Tyr
ENST00000675643.1:c.211A>T ENSP00000502797.1:p.Asn71Tyr
ENST00000675691.1:c.211A>T ENSP00000502196.1:p.Asn71Tyr
ENST00000675751.1:c.211A>T ENSP00000502277.1:p.Asn71Tyr
ENST00000675853.1:c.211A>T ENSP00000502367.1:p.Asn71Tyr
ENST00000675917.1:n.508A>T
ENST00000675953.1:c.211A>T ENSP00000502321.1:p.Asn71Tyr
ENST00000675986.1:n.369A>T
ENST00000676004.1:c.*210A>T ENSP00000502765.1:n.*210A>T
ENST00000676040.1:c.211A>T ENSP00000502108.1:p.Asn71Tyr
ENST00000676168.1:c.211A>T ENSP00000502479.1:p.Asn71Tyr
ENST00000676209.1:c.211A>T ENSP00000502052.1:p.Asn71Tyr
ENST00000676211.1:c.211A>T ENSP00000502726.1:p.Asn71Tyr
ENST00000676212.1:c.211A>T ENSP00000501853.1:p.Asn71Tyr
ENST00000676247.1:c.211A>T ENSP00000502699.1:p.Asn71Tyr
ENST00000261772.12:c.211A>T ENSP00000261772.7:p.Asn71Tyr
NM_001605.2:c.211A>T , LRG_359t1:c.211A>T NP_001596.2:p.Asn71Tyr
XR_933220.1:n.362A>T
XR_933220.3:n.321A>T
NM_001605.3:c.211A>T MANE Select NP_001596.2:p.Asn71Tyr