Canonical Allele Identifier: CA233065
Gene: AARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155734
dbSNP Id: rs138081804

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70255829G>A , CM000678.2:g.70255829G>A GRCh38
NC_000016.9:g.70289732G>A , CM000678.1:g.70289732G>A GRCh37
NC_000016.8:g.68847233G>A NCBI36
NG_023191.1:g.38681C>T , LRG_359:g.38681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261772.13:c.2185C>T MANE Select ENSP00000261772.8:p.Arg729Trp
ENST00000564359.6:n.2158C>T
ENST00000565361.3:c.2185C>T ENSP00000455360.3:p.Arg729Trp
ENST00000674512.1:c.2164C>T ENSP00000501613.1:p.Arg722Trp
ENST00000674652.1:c.*1974C>T ENSP00000502620.1:n.*1974C>T
ENST00000674691.1:c.2185C>T ENSP00000502247.1:p.Arg729Trp
ENST00000674768.1:c.*440C>T ENSP00000501679.1:n.*440C>T
ENST00000674811.1:c.*378C>T ENSP00000502055.1:n.*378C>T
ENST00000674848.1:n.2234C>T
ENST00000674962.1:n.4539C>T
ENST00000674963.1:c.2185C>T ENSP00000501924.1:p.Arg729Trp
ENST00000675035.1:c.2165C>T ENSP00000502712.1:p.Ala722Val
ENST00000675045.1:c.2212C>T ENSP00000502014.1:p.Arg738Trp
ENST00000675120.1:c.*495C>T ENSP00000502823.1:n.*495C>T
ENST00000675133.1:c.2158C>T ENSP00000502230.1:p.Arg720Trp
ENST00000675270.1:n.2320C>T
ENST00000675297.1:c.*537C>T ENSP00000502753.1:n.*537C>T
ENST00000675371.1:c.2000C>T ENSP00000502645.1:p.Ala667Val
ENST00000675403.1:n.3105C>T
ENST00000675569.1:c.*1419C>T ENSP00000502534.1:n.*1419C>T
ENST00000675643.1:c.2185C>T ENSP00000502797.1:p.Arg729Trp
ENST00000675691.1:c.2056C>T ENSP00000502196.1:p.Arg686Trp
ENST00000675751.1:c.*1212C>T ENSP00000502277.1:n.*1212C>T
ENST00000675853.1:c.2185C>T ENSP00000502367.1:p.Arg729Trp
ENST00000675917.1:n.2482C>T
ENST00000675953.1:c.2101C>T ENSP00000502321.1:p.Arg701Trp
ENST00000675986.1:n.2343C>T
ENST00000676004.1:c.*2184C>T ENSP00000502765.1:n.*2184C>T
ENST00000676040.1:c.*1419C>T ENSP00000502108.1:n.*1419C>T
ENST00000676065.1:n.502C>T
ENST00000676168.1:c.2000C>T ENSP00000502479.1:p.Ala667Val
ENST00000676209.1:c.*537C>T ENSP00000502052.1:n.*537C>T
ENST00000676211.1:c.*1212C>T ENSP00000502726.1:n.*1212C>T
ENST00000676212.1:c.2185C>T ENSP00000501853.1:p.Arg729Trp
ENST00000676247.1:c.*537C>T ENSP00000502699.1:n.*537C>T
ENST00000261772.12:c.2185C>T ENSP00000261772.7:p.Arg729Trp
ENST00000564359.5:n.496C>T
ENST00000565361.2:c.530C>T
ENST00000569825.1:n.191C>T
NM_001605.2:c.2185C>T , LRG_359t1:c.2185C>T NP_001596.2:p.Arg729Trp
XR_933220.1:n.2151C>T
XR_933220.3:n.2110C>T
NM_001605.3:c.2185C>T MANE Select NP_001596.2:p.Arg729Trp