Canonical Allele Identifier: CA2555182355

Gene: AARS1

Linked Data

• gnomAD v4: 16-70255668-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70255668C>A , CM000678.2:g.70255668C>A	GRCh38
NC_000016.9:g.70289571C>A , CM000678.1:g.70289571C>A	GRCh37
NC_000016.8:g.68847072C>A	NCBI36
NG_023191.1:g.38842G>T , LRG_359:g.38842G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261772.13:c.2286+60G>T MANE Select	ENSP00000261772.8:n.2286+60G>T
ENST00000564359.6:n.2319G>T
ENST00000565361.3:c.2286+60G>T	ENSP00000455360.3:n.2286+60G>T
ENST00000674512.1:c.2265+60G>T	ENSP00000501613.1:n.2265+60G>T
ENST00000674652.1:c.*2075+60G>T	ENSP00000502620.1:n.*2075+60G>T
ENST00000674691.1:c.2286+60G>T	ENSP00000502247.1:n.2286+60G>T
ENST00000674768.1:c.*541+60G>T	ENSP00000501679.1:n.*541+60G>T
ENST00000674811.1:c.*479+60G>T	ENSP00000502055.1:n.*479+60G>T
ENST00000674848.1:n.2335+60G>T
ENST00000674962.1:n.4640+60G>T
ENST00000674963.1:c.2286+60G>T	ENSP00000501924.1:n.2286+60G>T
ENST00000675035.1:c.2266+60G>T	ENSP00000502712.1:n.2266+60G>T
ENST00000675045.1:c.2313+60G>T	ENSP00000502014.1:n.2313+60G>T
ENST00000675120.1:c.*596+60G>T	ENSP00000502823.1:n.*596+60G>T
ENST00000675133.1:c.2259+60G>T	ENSP00000502230.1:n.2259+60G>T
ENST00000675270.1:n.2421+60G>T
ENST00000675297.1:c.*638+60G>T	ENSP00000502753.1:n.*638+60G>T
ENST00000675371.1:c.2101+60G>T	ENSP00000502645.1:n.2101+60G>T
ENST00000675403.1:n.3206+60G>T
ENST00000675569.1:c.*1520+60G>T	ENSP00000502534.1:n.*1520+60G>T
ENST00000675643.1:c.2286+60G>T	ENSP00000502797.1:n.2286+60G>T
ENST00000675691.1:c.2157+60G>T	ENSP00000502196.1:n.2157+60G>T
ENST00000675751.1:c.*1313+60G>T	ENSP00000502277.1:n.*1313+60G>T
ENST00000675853.1:c.2286+60G>T	ENSP00000502367.1:n.2286+60G>T
ENST00000675917.1:n.2583+60G>T
ENST00000675953.1:c.2202+60G>T	ENSP00000502321.1:n.2202+60G>T
ENST00000675986.1:n.2444+60G>T
ENST00000676004.1:c.*2285+60G>T	ENSP00000502765.1:n.*2285+60G>T
ENST00000676040.1:c.*1520+60G>T	ENSP00000502108.1:n.*1520+60G>T
ENST00000676065.1:n.603+60G>T
ENST00000676168.1:c.2101+60G>T	ENSP00000502479.1:n.2101+60G>T
ENST00000676209.1:c.*638+60G>T	ENSP00000502052.1:n.*638+60G>T
ENST00000676211.1:c.*1313+60G>T	ENSP00000502726.1:n.*1313+60G>T
ENST00000676212.1:c.2294+52G>T	ENSP00000501853.1:n.2294+52G>T
ENST00000676247.1:c.*638+60G>T	ENSP00000502699.1:n.*638+60G>T
ENST00000261772.12:c.2286+60G>T	ENSP00000261772.7:n.2286+60G>T
ENST00000565361.2:c.631+60G>T
ENST00000569825.1:n.292+60G>T
NM_001605.2:c.2286+60G>T , LRG_359t1:c.2286+60G>T	NP_001596.2:n.2286+60G>T
XR_933220.1:n.2252+60G>T
XR_933220.3:n.2211+60G>T
NM_001605.3:c.2286+60G>T MANE Select	NP_001596.2:n.2286+60G>T