Canonical Allele Identifier: CA8140776

Gene: AARS1

Linked Data

• ClinVar Variation Id: 320341
• ClinVar RCV Id: RCV000653995 ; RCV001094345
• dbSNP Id: rs376087556
• ExAC: 16:70296434 A / G
• gnomAD v2: 16-70296434-A-G
• gnomAD v3: 16-70262531-A-G
• gnomAD v4: 16-70262531-A-G
• MyVariant Identifiers: chr16:g.70296434A>G (hg19) ; chr16:g.70262531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70262531A>G , CM000678.2:g.70262531A>G	GRCh38
NC_000016.9:g.70296434A>G , CM000678.1:g.70296434A>G	GRCh37
NC_000016.8:g.68853935A>G	NCBI36
NG_023191.1:g.31979T>C , LRG_359:g.31979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.1493-7T>C MANE Select	ENSP00000261772.8:n.1493-7T>C
ENST00000564359.6:n.1651-7T>C
ENST00000565361.3:c.1493-7T>C	ENSP00000455360.3:n.1493-7T>C
ENST00000674512.1:c.1493-7T>C	ENSP00000501613.1:n.1493-7T>C
ENST00000674652.1:c.*520-7T>C	ENSP00000502620.1:n.*520-7T>C
ENST00000674691.1:c.1493-7T>C	ENSP00000502247.1:n.1493-7T>C
ENST00000674768.1:c.1493-1374T>C	ENSP00000501679.1:n.1493-1374T>C
ENST00000674811.1:c.963-3345T>C	ENSP00000502055.1:n.963-3345T>C
ENST00000674848.1:n.1542-7T>C
ENST00000674962.1:n.1651-7T>C
ENST00000674963.1:c.1493-7T>C	ENSP00000501924.1:n.1493-7T>C
ENST00000675035.1:c.1493-7T>C	ENSP00000502712.1:n.1493-7T>C
ENST00000675045.1:c.1493-7T>C	ENSP00000502014.1:n.1493-7T>C
ENST00000675120.1:c.1493-7T>C	ENSP00000502823.1:n.1493-7T>C
ENST00000675133.1:c.1493-7T>C	ENSP00000502230.1:n.1493-7T>C
ENST00000675270.1:n.1628-7T>C
ENST00000675297.1:c.1493-47T>C	ENSP00000502753.1:n.1493-47T>C
ENST00000675371.1:c.1493-7T>C	ENSP00000502645.1:n.1493-7T>C
ENST00000675403.1:n.1651-7T>C
ENST00000675569.1:c.*727-7T>C	ENSP00000502534.1:n.*727-7T>C
ENST00000675643.1:c.1493-7T>C	ENSP00000502797.1:n.1493-7T>C
ENST00000675691.1:c.1364-7T>C	ENSP00000502196.1:n.1364-7T>C
ENST00000675751.1:c.*520-7T>C	ENSP00000502277.1:n.*520-7T>C
ENST00000675853.1:c.1493-7T>C	ENSP00000502367.1:n.1493-7T>C
ENST00000675917.1:n.1790-7T>C
ENST00000675953.1:c.1409-7T>C	ENSP00000502321.1:n.1409-7T>C
ENST00000675986.1:n.1651-7T>C
ENST00000676004.1:c.*1492-7T>C	ENSP00000502765.1:n.*1492-7T>C
ENST00000676040.1:c.*727-7T>C	ENSP00000502108.1:n.*727-7T>C
ENST00000676168.1:c.1493-7T>C	ENSP00000502479.1:n.1493-7T>C
ENST00000676209.1:c.1493-47T>C	ENSP00000502052.1:n.1493-47T>C
ENST00000676211.1:c.*520-7T>C	ENSP00000502726.1:n.*520-7T>C
ENST00000676212.1:c.1493-7T>C	ENSP00000501853.1:n.1493-7T>C
ENST00000676247.1:c.1493-47T>C	ENSP00000502699.1:n.1493-47T>C
ENST00000261772.12:c.1493-7T>C	ENSP00000261772.7:n.1493-7T>C
ENST00000564359.5:n.29-47T>C
ENST00000566969.1:n.559-7T>C
ENST00000569790.2:n.264-1374T>C
NM_001605.2:c.1493-7T>C , LRG_359t1:c.1493-7T>C	NP_001596.2:n.1493-7T>C
XR_933220.1:n.1644-7T>C
XR_933220.3:n.1603-7T>C
NM_001605.3:c.1493-7T>C MANE Select	NP_001596.2:n.1493-7T>C