Canonical Allele Identifier: CA396557881

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258979C>T , CM000678.2:g.70258979C>T	GRCh38
NC_000016.9:g.70292882C>T , CM000678.1:g.70292882C>T	GRCh37
NC_000016.8:g.68850383C>T	NCBI36
NG_023191.1:g.35531G>A , LRG_359:g.35531G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.1992+1G>A MANE Select	NP_001596.2:n.1992+1G>A
ENST00000261772.13:c.1992+1G>A MANE Select	ENSP00000261772.8:n.1992+1G>A
NM_001605.2:c.1992+1G>A , LRG_359t1:c.1992+1G>A	NP_001596.2:n.1992+1G>A
ENST00000261772.12:c.1992+1G>A	ENSP00000261772.7:n.1992+1G>A
ENST00000564359.5:n.488+1G>A
ENST00000564359.6:n.2150+1G>A
ENST00000565361.2:c.337+1G>A
ENST00000565361.3:c.1992+1G>A	ENSP00000455360.3:n.1992+1G>A
ENST00000674512.1:c.1971+1G>A	ENSP00000501613.1:n.1971+1G>A
ENST00000674652.1:c.*1020G>A	ENSP00000502620.1:n.*1020G>A
ENST00000674691.1:c.1992+1G>A	ENSP00000502247.1:n.1992+1G>A
ENST00000674768.1:c.*247+1G>A	ENSP00000501679.1:n.*247+1G>A
ENST00000674811.1:c.*185+1G>A	ENSP00000502055.1:n.*185+1G>A
ENST00000674848.1:n.2041+1G>A
ENST00000674962.1:n.2150+1G>A
ENST00000674963.1:c.1992+1G>A	ENSP00000501924.1:n.1992+1G>A
ENST00000675035.1:c.1992+1G>A	ENSP00000502712.1:n.1992+1G>A
ENST00000675045.1:c.1992+1G>A	ENSP00000502014.1:n.1992+1G>A
ENST00000675120.1:c.*302+1G>A	ENSP00000502823.1:n.*302+1G>A
ENST00000675133.1:c.1965+1G>A	ENSP00000502230.1:n.1965+1G>A
ENST00000675270.1:n.2127+1G>A
ENST00000675297.1:c.*344+1G>A	ENSP00000502753.1:n.*344+1G>A
ENST00000675371.1:c.1992+1G>A	ENSP00000502645.1:n.1992+1G>A
ENST00000675403.1:n.2151G>A
ENST00000675569.1:c.*1226+1G>A	ENSP00000502534.1:n.*1226+1G>A
ENST00000675643.1:c.1992+1G>A	ENSP00000502797.1:n.1992+1G>A
ENST00000675691.1:c.1863+1G>A	ENSP00000502196.1:n.1863+1G>A
ENST00000675751.1:c.*1019+1G>A	ENSP00000502277.1:n.*1019+1G>A
ENST00000675853.1:c.1992+1G>A	ENSP00000502367.1:n.1992+1G>A
ENST00000675917.1:n.2289+1G>A
ENST00000675953.1:c.1908+1G>A	ENSP00000502321.1:n.1908+1G>A
ENST00000675986.1:n.2150+1G>A
ENST00000676004.1:c.*1991+1G>A	ENSP00000502765.1:n.*1991+1G>A
ENST00000676040.1:c.*1226+1G>A	ENSP00000502108.1:n.*1226+1G>A
ENST00000676168.1:c.1992+1G>A	ENSP00000502479.1:n.1992+1G>A
ENST00000676209.1:c.*344+1G>A	ENSP00000502052.1:n.*344+1G>A
ENST00000676211.1:c.*1019+1G>A	ENSP00000502726.1:n.*1019+1G>A
ENST00000676212.1:c.1992+1G>A	ENSP00000501853.1:n.1992+1G>A
ENST00000676247.1:c.*344+1G>A	ENSP00000502699.1:n.*344+1G>A
XR_933220.1:n.2143+1G>A
XR_933220.3:n.2102+1G>A