Canonical Allele Identifier: CA8140574
Gene: AARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2181461
ClinVar RCV Id: RCV002595661
dbSNP Id: rs563959372

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70258141T>C , CM000678.2:g.70258141T>C GRCh38
NC_000016.9:g.70292044T>C , CM000678.1:g.70292044T>C GRCh37
NC_000016.8:g.68849545T>C NCBI36
NG_023191.1:g.36369A>G , LRG_359:g.36369A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261772.13:c.2069A>G MANE Select ENSP00000261772.8:p.Tyr690Cys
ENST00000564359.6:n.2150+839A>G
ENST00000565361.3:c.2069A>G ENSP00000455360.3:p.Tyr690Cys
ENST00000674512.1:c.2048A>G ENSP00000501613.1:p.Tyr683Cys
ENST00000674652.1:c.*1858A>G ENSP00000502620.1:n.*1858A>G
ENST00000674691.1:c.2069A>G ENSP00000502247.1:p.Tyr690Cys
ENST00000674768.1:c.*324A>G ENSP00000501679.1:n.*324A>G
ENST00000674811.1:c.*262A>G ENSP00000502055.1:n.*262A>G
ENST00000674848.1:n.2118A>G
ENST00000674962.1:n.2227A>G
ENST00000674963.1:c.2069A>G ENSP00000501924.1:p.Tyr690Cys
ENST00000675035.1:c.2069A>G ENSP00000502712.1:p.Tyr690Cys
ENST00000675045.1:c.2096A>G ENSP00000502014.1:p.Tyr699Cys
ENST00000675120.1:c.*379A>G ENSP00000502823.1:n.*379A>G
ENST00000675133.1:c.2042A>G ENSP00000502230.1:p.Tyr681Cys
ENST00000675270.1:n.2204A>G
ENST00000675297.1:c.*421A>G ENSP00000502753.1:n.*421A>G
ENST00000675371.1:c.1992+839A>G ENSP00000502645.1:n.1992+839A>G
ENST00000675403.1:n.2989A>G
ENST00000675569.1:c.*1303A>G ENSP00000502534.1:n.*1303A>G
ENST00000675643.1:c.2069A>G ENSP00000502797.1:p.Tyr690Cys
ENST00000675691.1:c.1940A>G ENSP00000502196.1:p.Tyr647Cys
ENST00000675751.1:c.*1096A>G ENSP00000502277.1:n.*1096A>G
ENST00000675853.1:c.2069A>G ENSP00000502367.1:p.Tyr690Cys
ENST00000675917.1:n.2366A>G
ENST00000675953.1:c.1985A>G ENSP00000502321.1:p.Tyr662Cys
ENST00000675986.1:n.2227A>G
ENST00000676004.1:c.*2068A>G ENSP00000502765.1:n.*2068A>G
ENST00000676040.1:c.*1303A>G ENSP00000502108.1:n.*1303A>G
ENST00000676168.1:c.1992+839A>G ENSP00000502479.1:n.1992+839A>G
ENST00000676209.1:c.*421A>G ENSP00000502052.1:n.*421A>G
ENST00000676211.1:c.*1096A>G ENSP00000502726.1:n.*1096A>G
ENST00000676212.1:c.2069A>G ENSP00000501853.1:p.Tyr690Cys
ENST00000676247.1:c.*421A>G ENSP00000502699.1:n.*421A>G
ENST00000261772.12:c.2069A>G ENSP00000261772.7:p.Tyr690Cys
ENST00000564359.5:n.488+839A>G
ENST00000565361.2:c.414A>G
ENST00000569825.1:n.75A>G
NM_001605.2:c.2069A>G , LRG_359t1:c.2069A>G NP_001596.2:p.Tyr690Cys
XR_933220.1:n.2143+839A>G
XR_933220.3:n.2102+839A>G
NM_001605.3:c.2069A>G MANE Select NP_001596.2:p.Tyr690Cys