Canonical Allele Identifier: CA10638257

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70254643C>G , CM000678.2:g.70254643C>G	GRCh38
NC_000016.9:g.70288546C>G , CM000678.1:g.70288546C>G	GRCh37
NC_000016.8:g.68846047C>G	NCBI36
NG_023191.1:g.39867G>C , LRG_359:g.39867G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2378G>C MANE Select	NP_001596.2:p.Arg793Thr
ENST00000261772.13:c.2378G>C MANE Select	ENSP00000261772.8:p.Arg793Thr
NM_001605.2:c.2378G>C , LRG_359t1:c.2378G>C	NP_001596.2:p.Arg793Thr
ENST00000261772.12:c.2378G>C	ENSP00000261772.7:p.Arg793Thr
ENST00000565361.2:c.723G>C
ENST00000565361.3:c.2378G>C	ENSP00000455360.3:p.Arg793Thr
ENST00000569825.1:n.384G>C
ENST00000569825.2:n.491G>C
ENST00000674512.1:c.2357G>C	ENSP00000501613.1:p.Arg786Thr
ENST00000674652.1:c.*2167G>C	ENSP00000502620.1:n.*2167G>C
ENST00000674691.1:c.2378G>C	ENSP00000502247.1:p.Arg793Thr
ENST00000674768.1:c.*633G>C	ENSP00000501679.1:n.*633G>C
ENST00000674811.1:c.*571G>C	ENSP00000502055.1:n.*571G>C
ENST00000674848.1:n.2427G>C
ENST00000674962.1:n.4732G>C
ENST00000674963.1:c.2378G>C	ENSP00000501924.1:p.Arg793Thr
ENST00000675035.1:c.2358G>C	ENSP00000502712.1:p.Glu786Asp
ENST00000675045.1:c.2405G>C	ENSP00000502014.1:p.Arg802Thr
ENST00000675120.1:c.*688G>C	ENSP00000502823.1:n.*688G>C
ENST00000675133.1:c.2351G>C	ENSP00000502230.1:p.Arg784Thr
ENST00000675270.1:n.2513G>C
ENST00000675297.1:c.*730G>C	ENSP00000502753.1:n.*730G>C
ENST00000675371.1:c.2193G>C	ENSP00000502645.1:p.Glu731Asp
ENST00000675403.1:n.3298G>C
ENST00000675569.1:c.*1612G>C	ENSP00000502534.1:n.*1612G>C
ENST00000675588.1:n.543G>C
ENST00000675643.1:c.2378G>C	ENSP00000502797.1:p.Arg793Thr
ENST00000675691.1:c.2249G>C	ENSP00000502196.1:p.Arg750Thr
ENST00000675751.1:c.*1405G>C	ENSP00000502277.1:n.*1405G>C
ENST00000675853.1:c.2378G>C	ENSP00000502367.1:p.Arg793Thr
ENST00000675917.1:n.2675G>C
ENST00000675953.1:c.2294G>C	ENSP00000502321.1:p.Arg765Thr
ENST00000675986.1:n.2536G>C
ENST00000676004.1:c.*2377G>C	ENSP00000502765.1:n.*2377G>C
ENST00000676040.1:c.*1612G>C	ENSP00000502108.1:n.*1612G>C
ENST00000676065.1:n.695G>C
ENST00000676168.1:c.2193G>C	ENSP00000502479.1:p.Glu731Asp
ENST00000676209.1:c.*730G>C	ENSP00000502052.1:n.*730G>C
ENST00000676211.1:c.*1405G>C	ENSP00000502726.1:n.*1405G>C
ENST00000676212.1:c.*67G>C	ENSP00000501853.1:n.*67G>C
ENST00000676247.1:c.*730G>C	ENSP00000502699.1:n.*730G>C
XR_933220.1:n.2344G>C
XR_933220.3:n.2303G>C