Canonical Allele Identifier: CA396565701

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70270339C>G , CM000678.2:g.70270339C>G	GRCh38
NC_000016.9:g.70304242C>G , CM000678.1:g.70304242C>G	GRCh37
NC_000016.8:g.68861743C>G	NCBI36
NG_023191.1:g.24171G>C , LRG_359:g.24171G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.673G>C MANE Select	NP_001596.2:p.Glu225Gln
ENST00000261772.13:c.673G>C MANE Select	ENSP00000261772.8:p.Glu225Gln
NM_001605.2:c.673G>C , LRG_359t1:c.673G>C	NP_001596.2:p.Glu225Gln
ENST00000261772.12:c.673G>C	ENSP00000261772.7:p.Glu225Gln
ENST00000564359.6:n.831G>C
ENST00000565361.3:c.673G>C	ENSP00000455360.3:p.Glu225Gln
ENST00000674512.1:c.673G>C	ENSP00000501613.1:p.Glu225Gln
ENST00000674652.1:c.672-576G>C	ENSP00000502620.1:n.672-576G>C
ENST00000674691.1:c.673G>C	ENSP00000502247.1:p.Glu225Gln
ENST00000674768.1:c.673G>C	ENSP00000501679.1:p.Glu225Gln
ENST00000674811.1:c.673G>C	ENSP00000502055.1:p.Glu225Gln
ENST00000674848.1:n.722G>C
ENST00000674962.1:n.831G>C
ENST00000674963.1:c.673G>C	ENSP00000501924.1:p.Glu225Gln
ENST00000675035.1:c.673G>C	ENSP00000502712.1:p.Glu225Gln
ENST00000675045.1:c.673G>C	ENSP00000502014.1:p.Glu225Gln
ENST00000675120.1:c.673G>C	ENSP00000502823.1:p.Glu225Gln
ENST00000675133.1:c.673G>C	ENSP00000502230.1:p.Glu225Gln
ENST00000675270.1:n.952-576G>C
ENST00000675297.1:c.673G>C	ENSP00000502753.1:p.Glu225Gln
ENST00000675338.1:n.829G>C
ENST00000675371.1:c.673G>C	ENSP00000502645.1:p.Glu225Gln
ENST00000675403.1:n.831G>C
ENST00000675569.1:c.673G>C	ENSP00000502534.1:p.Glu225Gln
ENST00000675643.1:c.673G>C	ENSP00000502797.1:p.Glu225Gln
ENST00000675691.1:c.672-576G>C	ENSP00000502196.1:n.672-576G>C
ENST00000675751.1:c.672-576G>C	ENSP00000502277.1:n.672-576G>C
ENST00000675853.1:c.673G>C	ENSP00000502367.1:p.Glu225Gln
ENST00000675917.1:n.970G>C
ENST00000675953.1:c.589G>C	ENSP00000502321.1:p.Glu197Gln
ENST00000675986.1:n.831G>C
ENST00000676004.1:c.*672G>C	ENSP00000502765.1:n.*672G>C
ENST00000676040.1:c.673G>C	ENSP00000502108.1:p.Glu225Gln
ENST00000676168.1:c.673G>C	ENSP00000502479.1:p.Glu225Gln
ENST00000676209.1:c.673G>C	ENSP00000502052.1:p.Glu225Gln
ENST00000676211.1:c.672-576G>C	ENSP00000502726.1:n.672-576G>C
ENST00000676212.1:c.673G>C	ENSP00000501853.1:p.Glu225Gln
ENST00000676247.1:c.673G>C	ENSP00000502699.1:p.Glu225Gln
XR_933220.1:n.824G>C
XR_933220.3:n.783G>C