Canonical Allele Identifier: CA2634034939

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258227-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258227C>A , CM000678.2:g.70258227C>A	GRCh38
NC_000016.9:g.70292130C>A , CM000678.1:g.70292130C>A	GRCh37
NC_000016.8:g.68849631C>A	NCBI36
NG_023191.1:g.36283G>T , LRG_359:g.36283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.1993-10G>T MANE Select	ENSP00000261772.8:n.1993-10G>T
ENST00000564359.6:n.2150+753G>T
ENST00000565361.3:c.1993-10G>T	ENSP00000455360.3:n.1993-10G>T
ENST00000674512.1:c.1972-10G>T	ENSP00000501613.1:n.1972-10G>T
ENST00000674652.1:c.*1772G>T	ENSP00000502620.1:n.*1772G>T
ENST00000674691.1:c.1993-10G>T	ENSP00000502247.1:n.1993-10G>T
ENST00000674768.1:c.*248-10G>T	ENSP00000501679.1:n.*248-10G>T
ENST00000674811.1:c.*186-10G>T	ENSP00000502055.1:n.*186-10G>T
ENST00000674848.1:n.2042-10G>T
ENST00000674962.1:n.2151-10G>T
ENST00000674963.1:c.1993-10G>T	ENSP00000501924.1:n.1993-10G>T
ENST00000675035.1:c.1993-10G>T	ENSP00000502712.1:n.1993-10G>T
ENST00000675045.1:c.2010G>T	ENSP00000502014.1:p.Leu670Phe
ENST00000675120.1:c.*303-10G>T	ENSP00000502823.1:n.*303-10G>T
ENST00000675133.1:c.1966-10G>T	ENSP00000502230.1:n.1966-10G>T
ENST00000675270.1:n.2128-10G>T
ENST00000675297.1:c.*345-10G>T	ENSP00000502753.1:n.*345-10G>T
ENST00000675371.1:c.1992+753G>T	ENSP00000502645.1:n.1992+753G>T
ENST00000675403.1:n.2903G>T
ENST00000675569.1:c.*1227-10G>T	ENSP00000502534.1:n.*1227-10G>T
ENST00000675643.1:c.1993-10G>T	ENSP00000502797.1:n.1993-10G>T
ENST00000675691.1:c.1864-10G>T	ENSP00000502196.1:n.1864-10G>T
ENST00000675751.1:c.*1020-10G>T	ENSP00000502277.1:n.*1020-10G>T
ENST00000675853.1:c.1993-10G>T	ENSP00000502367.1:n.1993-10G>T
ENST00000675917.1:n.2290-10G>T
ENST00000675953.1:c.1909-10G>T	ENSP00000502321.1:n.1909-10G>T
ENST00000675986.1:n.2151-10G>T
ENST00000676004.1:c.*1992-10G>T	ENSP00000502765.1:n.*1992-10G>T
ENST00000676040.1:c.*1227-10G>T	ENSP00000502108.1:n.*1227-10G>T
ENST00000676168.1:c.1992+753G>T	ENSP00000502479.1:n.1992+753G>T
ENST00000676209.1:c.*345-10G>T	ENSP00000502052.1:n.*345-10G>T
ENST00000676211.1:c.*1020-10G>T	ENSP00000502726.1:n.*1020-10G>T
ENST00000676212.1:c.1993-10G>T	ENSP00000501853.1:n.1993-10G>T
ENST00000676247.1:c.*345-10G>T	ENSP00000502699.1:n.*345-10G>T
ENST00000261772.12:c.1993-10G>T	ENSP00000261772.7:n.1993-10G>T
ENST00000564359.5:n.488+753G>T
ENST00000565361.2:c.338-10G>T
NM_001605.2:c.1993-10G>T , LRG_359t1:c.1993-10G>T	NP_001596.2:n.1993-10G>T
XR_933220.1:n.2143+753G>T
XR_933220.3:n.2102+753G>T
NM_001605.3:c.1993-10G>T MANE Select	NP_001596.2:n.1993-10G>T