Canonical Allele Identifier: CA496200294

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252880G>A , CM000678.2:g.70252880G>A	GRCh38
NC_000016.9:g.70286783G>A , CM000678.1:g.70286783G>A	GRCh37
NC_000016.8:g.68844284G>A	NCBI36
NG_023191.1:g.41630C>T , LRG_359:g.41630C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2748C>T MANE Select	NP_001596.2:p.Ala916=
ENST00000261772.13:c.2748C>T MANE Select	ENSP00000261772.8:p.Ala916=
NM_001605.2:c.2748C>T , LRG_359t1:c.2748C>T	NP_001596.2:p.Ala916=
ENST00000261772.12:c.2748C>T	ENSP00000261772.7:p.Ala916=
ENST00000565361.3:c.2841C>T	ENSP00000455360.3:p.Ala947=
ENST00000569825.2:n.1193C>T
ENST00000674512.1:c.2727C>T	ENSP00000501613.1:p.Ala909=
ENST00000674652.1:c.*2537C>T	ENSP00000502620.1:n.*2537C>T
ENST00000674691.1:c.2748C>T	ENSP00000502247.1:p.Ala916=
ENST00000674768.1:c.*1335C>T	ENSP00000501679.1:n.*1335C>T
ENST00000674811.1:c.*941C>T	ENSP00000502055.1:n.*941C>T
ENST00000674848.1:n.3129C>T
ENST00000674962.1:n.5434C>T
ENST00000674963.1:c.2748C>T	ENSP00000501924.1:p.Ala916=
ENST00000675035.1:c.*358C>T	ENSP00000502712.1:n.*358C>T
ENST00000675045.1:c.2775C>T	ENSP00000502014.1:p.Ala925=
ENST00000675120.1:c.*1058C>T	ENSP00000502823.1:n.*1058C>T
ENST00000675133.1:c.2721C>T	ENSP00000502230.1:p.Ala907=
ENST00000675270.1:n.2883C>T
ENST00000675297.1:c.*2014C>T	ENSP00000502753.1:n.*2014C>T
ENST00000675371.1:c.*690C>T	ENSP00000502645.1:n.*690C>T
ENST00000675403.1:n.3668C>T
ENST00000675569.1:c.*1982C>T	ENSP00000502534.1:n.*1982C>T
ENST00000675588.1:n.1495C>T
ENST00000675643.1:c.2748C>T	ENSP00000502797.1:p.Ala916=
ENST00000675691.1:c.2619C>T	ENSP00000502196.1:p.Ala873=
ENST00000675751.1:c.*2107C>T	ENSP00000502277.1:n.*2107C>T
ENST00000675853.1:c.2796C>T	ENSP00000502367.1:p.Ala932=
ENST00000675917.1:n.3045C>T
ENST00000675953.1:c.2664C>T	ENSP00000502321.1:p.Ala888=
ENST00000675986.1:n.3238C>T
ENST00000676004.1:c.*2747C>T	ENSP00000502765.1:n.*2747C>T
ENST00000676040.1:c.*1982C>T	ENSP00000502108.1:n.*1982C>T
ENST00000676168.1:c.*358C>T	ENSP00000502479.1:n.*358C>T
ENST00000676209.1:c.*1100C>T	ENSP00000502052.1:n.*1100C>T
ENST00000676211.1:c.*1775C>T	ENSP00000502726.1:n.*1775C>T
ENST00000676212.1:c.*437C>T	ENSP00000501853.1:n.*437C>T
ENST00000676247.1:c.*1432C>T	ENSP00000502699.1:n.*1432C>T
XR_933220.1:n.2714C>T
XR_933220.3:n.2673C>T