Canonical Allele Identifier: CA496200307

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252892C>A , CM000678.2:g.70252892C>A	GRCh38
NC_000016.9:g.70286795C>A , CM000678.1:g.70286795C>A	GRCh37
NC_000016.8:g.68844296C>A	NCBI36
NG_023191.1:g.41618G>T , LRG_359:g.41618G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2736G>T MANE Select	NP_001596.2:p.Arg912=
ENST00000261772.13:c.2736G>T MANE Select	ENSP00000261772.8:p.Arg912=
NM_001605.2:c.2736G>T , LRG_359t1:c.2736G>T	NP_001596.2:p.Arg912=
ENST00000261772.12:c.2736G>T	ENSP00000261772.7:p.Arg912=
ENST00000565361.3:c.2829G>T	ENSP00000455360.3:p.Arg943=
ENST00000569825.2:n.1181G>T
ENST00000674512.1:c.2715G>T	ENSP00000501613.1:p.Arg905=
ENST00000674652.1:c.*2525G>T	ENSP00000502620.1:n.*2525G>T
ENST00000674691.1:c.2736G>T	ENSP00000502247.1:p.Arg912=
ENST00000674768.1:c.*1323G>T	ENSP00000501679.1:n.*1323G>T
ENST00000674811.1:c.*929G>T	ENSP00000502055.1:n.*929G>T
ENST00000674848.1:n.3117G>T
ENST00000674962.1:n.5422G>T
ENST00000674963.1:c.2736G>T	ENSP00000501924.1:p.Arg912=
ENST00000675035.1:c.*346G>T	ENSP00000502712.1:n.*346G>T
ENST00000675045.1:c.2763G>T	ENSP00000502014.1:p.Arg921=
ENST00000675120.1:c.*1046G>T	ENSP00000502823.1:n.*1046G>T
ENST00000675133.1:c.2709G>T	ENSP00000502230.1:p.Arg903=
ENST00000675270.1:n.2871G>T
ENST00000675297.1:c.*2002G>T	ENSP00000502753.1:n.*2002G>T
ENST00000675371.1:c.*678G>T	ENSP00000502645.1:n.*678G>T
ENST00000675403.1:n.3656G>T
ENST00000675569.1:c.*1970G>T	ENSP00000502534.1:n.*1970G>T
ENST00000675588.1:n.1483G>T
ENST00000675643.1:c.2736G>T	ENSP00000502797.1:p.Arg912=
ENST00000675691.1:c.2607G>T	ENSP00000502196.1:p.Arg869=
ENST00000675751.1:c.*2095G>T	ENSP00000502277.1:n.*2095G>T
ENST00000675853.1:c.2784G>T	ENSP00000502367.1:p.Arg928=
ENST00000675917.1:n.3033G>T
ENST00000675953.1:c.2652G>T	ENSP00000502321.1:p.Arg884=
ENST00000675986.1:n.3226G>T
ENST00000676004.1:c.*2735G>T	ENSP00000502765.1:n.*2735G>T
ENST00000676040.1:c.*1970G>T	ENSP00000502108.1:n.*1970G>T
ENST00000676168.1:c.*346G>T	ENSP00000502479.1:n.*346G>T
ENST00000676209.1:c.*1088G>T	ENSP00000502052.1:n.*1088G>T
ENST00000676211.1:c.*1763G>T	ENSP00000502726.1:n.*1763G>T
ENST00000676212.1:c.*425G>T	ENSP00000501853.1:n.*425G>T
ENST00000676247.1:c.*1420G>T	ENSP00000502699.1:n.*1420G>T
XR_933220.1:n.2702G>T
XR_933220.3:n.2661G>T