Canonical Allele Identifier: CA8140269

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252858A>C , CM000678.2:g.70252858A>C	GRCh38
NC_000016.9:g.70286761A>C , CM000678.1:g.70286761A>C	GRCh37
NC_000016.8:g.68844262A>C	NCBI36
NG_023191.1:g.41652T>G , LRG_359:g.41652T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2770T>G MANE Select	NP_001596.2:p.Ser924Ala
ENST00000261772.13:c.2770T>G MANE Select	ENSP00000261772.8:p.Ser924Ala
NM_001605.2:c.2770T>G , LRG_359t1:c.2770T>G	NP_001596.2:p.Ser924Ala
ENST00000261772.12:c.2770T>G	ENSP00000261772.7:p.Ser924Ala
ENST00000565361.3:c.2863T>G	ENSP00000455360.3:p.Ser955Ala
ENST00000569825.2:n.1215T>G
ENST00000674512.1:c.2749T>G	ENSP00000501613.1:p.Ser917Ala
ENST00000674652.1:c.*2559T>G	ENSP00000502620.1:n.*2559T>G
ENST00000674691.1:c.2770T>G	ENSP00000502247.1:p.Ser924Ala
ENST00000674768.1:c.*1357T>G	ENSP00000501679.1:n.*1357T>G
ENST00000674811.1:c.*963T>G	ENSP00000502055.1:n.*963T>G
ENST00000674848.1:n.3151T>G
ENST00000674962.1:n.5456T>G
ENST00000674963.1:c.2770T>G	ENSP00000501924.1:p.Ser924Ala
ENST00000675035.1:c.*380T>G	ENSP00000502712.1:n.*380T>G
ENST00000675045.1:c.2797T>G	ENSP00000502014.1:p.Ser933Ala
ENST00000675120.1:c.*1080T>G	ENSP00000502823.1:n.*1080T>G
ENST00000675133.1:c.2743T>G	ENSP00000502230.1:p.Ser915Ala
ENST00000675270.1:n.2905T>G
ENST00000675297.1:c.*2036T>G	ENSP00000502753.1:n.*2036T>G
ENST00000675371.1:c.*712T>G	ENSP00000502645.1:n.*712T>G
ENST00000675403.1:n.3690T>G
ENST00000675569.1:c.*2004T>G	ENSP00000502534.1:n.*2004T>G
ENST00000675588.1:n.1517T>G
ENST00000675643.1:c.2770T>G	ENSP00000502797.1:p.Ser924Ala
ENST00000675691.1:c.2641T>G	ENSP00000502196.1:p.Ser881Ala
ENST00000675751.1:c.*2129T>G	ENSP00000502277.1:n.*2129T>G
ENST00000675853.1:c.2818T>G	ENSP00000502367.1:p.Ser940Ala
ENST00000675917.1:n.3067T>G
ENST00000675953.1:c.2686T>G	ENSP00000502321.1:p.Ser896Ala
ENST00000675986.1:n.3260T>G
ENST00000676004.1:c.*2769T>G	ENSP00000502765.1:n.*2769T>G
ENST00000676040.1:c.*2004T>G	ENSP00000502108.1:n.*2004T>G
ENST00000676168.1:c.*380T>G	ENSP00000502479.1:n.*380T>G
ENST00000676209.1:c.*1122T>G	ENSP00000502052.1:n.*1122T>G
ENST00000676211.1:c.*1797T>G	ENSP00000502726.1:n.*1797T>G
ENST00000676212.1:c.*459T>G	ENSP00000501853.1:n.*459T>G
ENST00000676247.1:c.*1454T>G	ENSP00000502699.1:n.*1454T>G
XR_933220.1:n.2736T>G
XR_933220.3:n.2695T>G