Canonical Allele Identifier: CA8140310

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253308T>C , CM000678.2:g.70253308T>C	GRCh38
NC_000016.9:g.70287211T>C , CM000678.1:g.70287211T>C	GRCh37
NC_000016.8:g.68844712T>C	NCBI36
NG_023191.1:g.41202A>G , LRG_359:g.41202A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2681A>G MANE Select	ENSP00000261772.8:p.Asn894Ser
ENST00000565361.3:c.2774A>G	ENSP00000455360.3:p.Asn925Ser
ENST00000569825.2:n.1126A>G
ENST00000674512.1:c.2660A>G	ENSP00000501613.1:p.Asn887Ser
ENST00000674652.1:c.*2470A>G	ENSP00000502620.1:n.*2470A>G
ENST00000674691.1:c.2681A>G	ENSP00000502247.1:p.Asn894Ser
ENST00000674768.1:c.*1268A>G	ENSP00000501679.1:n.*1268A>G
ENST00000674811.1:c.*874A>G	ENSP00000502055.1:n.*874A>G
ENST00000674848.1:n.3062A>G
ENST00000674962.1:n.5367A>G
ENST00000674963.1:c.2681A>G	ENSP00000501924.1:p.Asn894Ser
ENST00000675035.1:c.*291A>G	ENSP00000502712.1:n.*291A>G
ENST00000675045.1:c.2708A>G	ENSP00000502014.1:p.Asn903Ser
ENST00000675120.1:c.*991A>G	ENSP00000502823.1:n.*991A>G
ENST00000675133.1:c.2654A>G	ENSP00000502230.1:p.Asn885Ser
ENST00000675270.1:n.2816A>G
ENST00000675297.1:c.*1947A>G	ENSP00000502753.1:n.*1947A>G
ENST00000675371.1:c.*623A>G	ENSP00000502645.1:n.*623A>G
ENST00000675403.1:n.3601A>G
ENST00000675569.1:c.*1915A>G	ENSP00000502534.1:n.*1915A>G
ENST00000675588.1:n.1428A>G
ENST00000675643.1:c.2681A>G	ENSP00000502797.1:p.Asn894Ser
ENST00000675691.1:c.2552A>G	ENSP00000502196.1:p.Asn851Ser
ENST00000675751.1:c.*2040A>G	ENSP00000502277.1:n.*2040A>G
ENST00000675853.1:c.2729A>G	ENSP00000502367.1:p.Asn910Ser
ENST00000675917.1:n.2978A>G
ENST00000675953.1:c.2597A>G	ENSP00000502321.1:p.Asn866Ser
ENST00000675986.1:n.3171A>G
ENST00000676004.1:c.*2680A>G	ENSP00000502765.1:n.*2680A>G
ENST00000676040.1:c.*1915A>G	ENSP00000502108.1:n.*1915A>G
ENST00000676168.1:c.*291A>G	ENSP00000502479.1:n.*291A>G
ENST00000676209.1:c.*1033A>G	ENSP00000502052.1:n.*1033A>G
ENST00000676211.1:c.*1708A>G	ENSP00000502726.1:n.*1708A>G
ENST00000676212.1:c.*370A>G	ENSP00000501853.1:n.*370A>G
ENST00000676247.1:c.*1365A>G	ENSP00000502699.1:n.*1365A>G
ENST00000261772.12:c.2681A>G	ENSP00000261772.7:p.Asn894Ser
NM_001605.2:c.2681A>G , LRG_359t1:c.2681A>G	NP_001596.2:p.Asn894Ser
XR_933220.1:n.2647A>G
XR_933220.3:n.2606A>G
NM_001605.3:c.2681A>G MANE Select	NP_001596.2:p.Asn894Ser