Canonical Allele Identifier: CA396554578

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252908T>G , CM000678.2:g.70252908T>G	GRCh38
NC_000016.9:g.70286811T>G , CM000678.1:g.70286811T>G	GRCh37
NC_000016.8:g.68844312T>G	NCBI36
NG_023191.1:g.41602A>C , LRG_359:g.41602A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2722-2A>C MANE Select	NP_001596.2:n.2722-2A>C
ENST00000261772.13:c.2722-2A>C MANE Select	ENSP00000261772.8:n.2722-2A>C
NM_001605.2:c.2722-2A>C , LRG_359t1:c.2722-2A>C	NP_001596.2:n.2722-2A>C
ENST00000261772.12:c.2722-2A>C	ENSP00000261772.7:n.2722-2A>C
ENST00000565361.3:c.2815-2A>C	ENSP00000455360.3:n.2815-2A>C
ENST00000569825.2:n.1167-2A>C
ENST00000674512.1:c.2701-2A>C	ENSP00000501613.1:n.2701-2A>C
ENST00000674652.1:c.*2511-2A>C	ENSP00000502620.1:n.*2511-2A>C
ENST00000674691.1:c.2722-2A>C	ENSP00000502247.1:n.2722-2A>C
ENST00000674768.1:c.*1309-2A>C	ENSP00000501679.1:n.*1309-2A>C
ENST00000674811.1:c.*915-2A>C	ENSP00000502055.1:n.*915-2A>C
ENST00000674848.1:n.3103-2A>C
ENST00000674962.1:n.5408-2A>C
ENST00000674963.1:c.2722-2A>C	ENSP00000501924.1:n.2722-2A>C
ENST00000675035.1:c.*332-2A>C	ENSP00000502712.1:n.*332-2A>C
ENST00000675045.1:c.2749-2A>C	ENSP00000502014.1:n.2749-2A>C
ENST00000675120.1:c.*1032-2A>C	ENSP00000502823.1:n.*1032-2A>C
ENST00000675133.1:c.2695-2A>C	ENSP00000502230.1:n.2695-2A>C
ENST00000675270.1:n.2857-2A>C
ENST00000675297.1:c.*1988-2A>C	ENSP00000502753.1:n.*1988-2A>C
ENST00000675371.1:c.*664-2A>C	ENSP00000502645.1:n.*664-2A>C
ENST00000675403.1:n.3642-2A>C
ENST00000675569.1:c.*1956-2A>C	ENSP00000502534.1:n.*1956-2A>C
ENST00000675588.1:n.1469-2A>C
ENST00000675643.1:c.2722-2A>C	ENSP00000502797.1:n.2722-2A>C
ENST00000675691.1:c.2593-2A>C	ENSP00000502196.1:n.2593-2A>C
ENST00000675751.1:c.*2081-2A>C	ENSP00000502277.1:n.*2081-2A>C
ENST00000675853.1:c.2770-2A>C	ENSP00000502367.1:n.2770-2A>C
ENST00000675917.1:n.3019-2A>C
ENST00000675953.1:c.2638-2A>C	ENSP00000502321.1:n.2638-2A>C
ENST00000675986.1:n.3212-2A>C
ENST00000676004.1:c.*2721-2A>C	ENSP00000502765.1:n.*2721-2A>C
ENST00000676040.1:c.*1956-2A>C	ENSP00000502108.1:n.*1956-2A>C
ENST00000676168.1:c.*332-2A>C	ENSP00000502479.1:n.*332-2A>C
ENST00000676209.1:c.*1074-2A>C	ENSP00000502052.1:n.*1074-2A>C
ENST00000676211.1:c.*1749-2A>C	ENSP00000502726.1:n.*1749-2A>C
ENST00000676212.1:c.*411-2A>C	ENSP00000501853.1:n.*411-2A>C
ENST00000676247.1:c.*1406-2A>C	ENSP00000502699.1:n.*1406-2A>C
XR_933220.1:n.2688-2A>C
XR_933220.3:n.2647-2A>C