Canonical Allele Identifier: CA396554361

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252810C>A , CM000678.2:g.70252810C>A	GRCh38
NC_000016.9:g.70286713C>A , CM000678.1:g.70286713C>A	GRCh37
NC_000016.8:g.68844214C>A	NCBI36
NG_023191.1:g.41700G>T , LRG_359:g.41700G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2818G>T MANE Select	NP_001596.2:p.Ala940Ser
ENST00000261772.13:c.2818G>T MANE Select	ENSP00000261772.8:p.Ala940Ser
NM_001605.2:c.2818G>T , LRG_359t1:c.2818G>T	NP_001596.2:p.Ala940Ser
ENST00000261772.12:c.2818G>T	ENSP00000261772.7:p.Ala940Ser
ENST00000565361.3:c.2911G>T	ENSP00000455360.3:p.Ala971Ser
ENST00000569825.2:n.1263G>T
ENST00000674512.1:c.2797G>T	ENSP00000501613.1:p.Ala933Ser
ENST00000674652.1:c.*2607G>T	ENSP00000502620.1:n.*2607G>T
ENST00000674691.1:c.2818G>T	ENSP00000502247.1:p.Ala940Ser
ENST00000674768.1:c.*1405G>T	ENSP00000501679.1:n.*1405G>T
ENST00000674811.1:c.*1011G>T	ENSP00000502055.1:n.*1011G>T
ENST00000674848.1:n.3199G>T
ENST00000674962.1:n.5504G>T
ENST00000674963.1:c.2818G>T	ENSP00000501924.1:p.Ala940Ser
ENST00000675035.1:c.*428G>T	ENSP00000502712.1:n.*428G>T
ENST00000675045.1:c.2845G>T	ENSP00000502014.1:p.Ala949Ser
ENST00000675120.1:c.*1128G>T	ENSP00000502823.1:n.*1128G>T
ENST00000675133.1:c.2791G>T	ENSP00000502230.1:p.Ala931Ser
ENST00000675270.1:n.2953G>T
ENST00000675297.1:c.*2084G>T	ENSP00000502753.1:n.*2084G>T
ENST00000675371.1:c.*760G>T	ENSP00000502645.1:n.*760G>T
ENST00000675403.1:n.3738G>T
ENST00000675569.1:c.*2052G>T	ENSP00000502534.1:n.*2052G>T
ENST00000675588.1:n.1565G>T
ENST00000675643.1:c.2818G>T	ENSP00000502797.1:p.Ala940Ser
ENST00000675691.1:c.2689G>T	ENSP00000502196.1:p.Ala897Ser
ENST00000675751.1:c.*2177G>T	ENSP00000502277.1:n.*2177G>T
ENST00000675853.1:c.2866G>T	ENSP00000502367.1:p.Ala956Ser
ENST00000675917.1:n.3115G>T
ENST00000675953.1:c.2734G>T	ENSP00000502321.1:p.Ala912Ser
ENST00000675986.1:n.3308G>T
ENST00000676004.1:c.*2817G>T	ENSP00000502765.1:n.*2817G>T
ENST00000676040.1:c.*2052G>T	ENSP00000502108.1:n.*2052G>T
ENST00000676168.1:c.*428G>T	ENSP00000502479.1:n.*428G>T
ENST00000676209.1:c.*1170G>T	ENSP00000502052.1:n.*1170G>T
ENST00000676211.1:c.*1845G>T	ENSP00000502726.1:n.*1845G>T
ENST00000676212.1:c.*507G>T	ENSP00000501853.1:n.*507G>T
ENST00000676247.1:c.*1502G>T	ENSP00000502699.1:n.*1502G>T
XR_933220.1:n.2784G>T
XR_933220.3:n.2743G>T