Canonical Allele Identifier: CA396554364

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252811C>A , CM000678.2:g.70252811C>A	GRCh38
NC_000016.9:g.70286714C>A , CM000678.1:g.70286714C>A	GRCh37
NC_000016.8:g.68844215C>A	NCBI36
NG_023191.1:g.41699G>T , LRG_359:g.41699G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2817G>T MANE Select	NP_001596.2:p.Gln939His
ENST00000261772.13:c.2817G>T MANE Select	ENSP00000261772.8:p.Gln939His
NM_001605.2:c.2817G>T , LRG_359t1:c.2817G>T	NP_001596.2:p.Gln939His
ENST00000261772.12:c.2817G>T	ENSP00000261772.7:p.Gln939His
ENST00000565361.3:c.2910G>T	ENSP00000455360.3:p.Gln970His
ENST00000569825.2:n.1262G>T
ENST00000674512.1:c.2796G>T	ENSP00000501613.1:p.Gln932His
ENST00000674652.1:c.*2606G>T	ENSP00000502620.1:n.*2606G>T
ENST00000674691.1:c.2817G>T	ENSP00000502247.1:p.Gln939His
ENST00000674768.1:c.*1404G>T	ENSP00000501679.1:n.*1404G>T
ENST00000674811.1:c.*1010G>T	ENSP00000502055.1:n.*1010G>T
ENST00000674848.1:n.3198G>T
ENST00000674962.1:n.5503G>T
ENST00000674963.1:c.2817G>T	ENSP00000501924.1:p.Gln939His
ENST00000675035.1:c.*427G>T	ENSP00000502712.1:n.*427G>T
ENST00000675045.1:c.2844G>T	ENSP00000502014.1:p.Gln948His
ENST00000675120.1:c.*1127G>T	ENSP00000502823.1:n.*1127G>T
ENST00000675133.1:c.2790G>T	ENSP00000502230.1:p.Gln930His
ENST00000675270.1:n.2952G>T
ENST00000675297.1:c.*2083G>T	ENSP00000502753.1:n.*2083G>T
ENST00000675371.1:c.*759G>T	ENSP00000502645.1:n.*759G>T
ENST00000675403.1:n.3737G>T
ENST00000675569.1:c.*2051G>T	ENSP00000502534.1:n.*2051G>T
ENST00000675588.1:n.1564G>T
ENST00000675643.1:c.2817G>T	ENSP00000502797.1:p.Gln939His
ENST00000675691.1:c.2688G>T	ENSP00000502196.1:p.Gln896His
ENST00000675751.1:c.*2176G>T	ENSP00000502277.1:n.*2176G>T
ENST00000675853.1:c.2865G>T	ENSP00000502367.1:p.Gln955His
ENST00000675917.1:n.3114G>T
ENST00000675953.1:c.2733G>T	ENSP00000502321.1:p.Gln911His
ENST00000675986.1:n.3307G>T
ENST00000676004.1:c.*2816G>T	ENSP00000502765.1:n.*2816G>T
ENST00000676040.1:c.*2051G>T	ENSP00000502108.1:n.*2051G>T
ENST00000676168.1:c.*427G>T	ENSP00000502479.1:n.*427G>T
ENST00000676209.1:c.*1169G>T	ENSP00000502052.1:n.*1169G>T
ENST00000676211.1:c.*1844G>T	ENSP00000502726.1:n.*1844G>T
ENST00000676212.1:c.*506G>T	ENSP00000501853.1:n.*506G>T
ENST00000676247.1:c.*1501G>T	ENSP00000502699.1:n.*1501G>T
XR_933220.1:n.2783G>T
XR_933220.3:n.2742G>T