Canonical Allele Identifier: CA623576756

Gene: AARS1

Linked Data

• ClinVar Variation Id: 2993574
• ClinVar RCV Id: RCV003853149
• dbSNP Id: rs1470035730
• gnomAD v2: 16-70292136-G-C
• gnomAD v3: 16-70258233-G-C
• gnomAD v4: 16-70258233-G-C
• MyVariant Identifiers: chr16:g.70292136G>C (hg19) ; chr16:g.70258233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258233G>C , CM000678.2:g.70258233G>C	GRCh38
NC_000016.9:g.70292136G>C , CM000678.1:g.70292136G>C	GRCh37
NC_000016.8:g.68849637G>C	NCBI36
NG_023191.1:g.36277C>G , LRG_359:g.36277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.1993-16C>G MANE Select	ENSP00000261772.8:n.1993-16C>G
ENST00000564359.6:n.2150+747C>G
ENST00000565361.3:c.1993-16C>G	ENSP00000455360.3:n.1993-16C>G
ENST00000674512.1:c.1972-16C>G	ENSP00000501613.1:n.1972-16C>G
ENST00000674652.1:c.*1766C>G	ENSP00000502620.1:n.*1766C>G
ENST00000674691.1:c.1993-16C>G	ENSP00000502247.1:n.1993-16C>G
ENST00000674768.1:c.*248-16C>G	ENSP00000501679.1:n.*248-16C>G
ENST00000674811.1:c.*186-16C>G	ENSP00000502055.1:n.*186-16C>G
ENST00000674848.1:n.2042-16C>G
ENST00000674962.1:n.2151-16C>G
ENST00000674963.1:c.1993-16C>G	ENSP00000501924.1:n.1993-16C>G
ENST00000675035.1:c.1993-16C>G	ENSP00000502712.1:n.1993-16C>G
ENST00000675045.1:c.2004C>G	ENSP00000502014.1:p.Val668=
ENST00000675120.1:c.*303-16C>G	ENSP00000502823.1:n.*303-16C>G
ENST00000675133.1:c.1966-16C>G	ENSP00000502230.1:n.1966-16C>G
ENST00000675270.1:n.2128-16C>G
ENST00000675297.1:c.*345-16C>G	ENSP00000502753.1:n.*345-16C>G
ENST00000675371.1:c.1992+747C>G	ENSP00000502645.1:n.1992+747C>G
ENST00000675403.1:n.2897C>G
ENST00000675569.1:c.*1227-16C>G	ENSP00000502534.1:n.*1227-16C>G
ENST00000675643.1:c.1993-16C>G	ENSP00000502797.1:n.1993-16C>G
ENST00000675691.1:c.1864-16C>G	ENSP00000502196.1:n.1864-16C>G
ENST00000675751.1:c.*1020-16C>G	ENSP00000502277.1:n.*1020-16C>G
ENST00000675853.1:c.1993-16C>G	ENSP00000502367.1:n.1993-16C>G
ENST00000675917.1:n.2290-16C>G
ENST00000675953.1:c.1909-16C>G	ENSP00000502321.1:n.1909-16C>G
ENST00000675986.1:n.2151-16C>G
ENST00000676004.1:c.*1992-16C>G	ENSP00000502765.1:n.*1992-16C>G
ENST00000676040.1:c.*1227-16C>G	ENSP00000502108.1:n.*1227-16C>G
ENST00000676168.1:c.1992+747C>G	ENSP00000502479.1:n.1992+747C>G
ENST00000676209.1:c.*345-16C>G	ENSP00000502052.1:n.*345-16C>G
ENST00000676211.1:c.*1020-16C>G	ENSP00000502726.1:n.*1020-16C>G
ENST00000676212.1:c.1993-16C>G	ENSP00000501853.1:n.1993-16C>G
ENST00000676247.1:c.*345-16C>G	ENSP00000502699.1:n.*345-16C>G
ENST00000261772.12:c.1993-16C>G	ENSP00000261772.7:n.1993-16C>G
ENST00000564359.5:n.488+747C>G
ENST00000565361.2:c.338-16C>G
NM_001605.2:c.1993-16C>G , LRG_359t1:c.1993-16C>G	NP_001596.2:n.1993-16C>G
XR_933220.1:n.2143+747C>G
XR_933220.3:n.2102+747C>G
NM_001605.3:c.1993-16C>G MANE Select	NP_001596.2:n.1993-16C>G