Canonical Allele Identifier: CA496200344

Gene: AARS1

Linked Data

• ClinVar Variation Id: 515299
• ClinVar RCV Id: RCV000612758 ; RCV003581694
• dbSNP Id: rs1555539241
• gnomAD v4: 16-70253277-T-C
• MyVariant Identifiers: chr16:g.70287180T>C (hg19) ; chr16:g.70253277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253277T>C , CM000678.2:g.70253277T>C	GRCh38
NC_000016.9:g.70287180T>C , CM000678.1:g.70287180T>C	GRCh37
NC_000016.8:g.68844681T>C	NCBI36
NG_023191.1:g.41233A>G , LRG_359:g.41233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2712A>G MANE Select	ENSP00000261772.8:p.Gln904=
ENST00000565361.3:c.2805A>G	ENSP00000455360.3:p.Gln935=
ENST00000569825.2:n.1157A>G
ENST00000674512.1:c.2691A>G	ENSP00000501613.1:p.Gln897=
ENST00000674652.1:c.*2501A>G	ENSP00000502620.1:n.*2501A>G
ENST00000674691.1:c.2712A>G	ENSP00000502247.1:p.Gln904=
ENST00000674768.1:c.*1299A>G	ENSP00000501679.1:n.*1299A>G
ENST00000674811.1:c.*905A>G	ENSP00000502055.1:n.*905A>G
ENST00000674848.1:n.3093A>G
ENST00000674962.1:n.5398A>G
ENST00000674963.1:c.2712A>G	ENSP00000501924.1:p.Gln904=
ENST00000675035.1:c.*322A>G	ENSP00000502712.1:n.*322A>G
ENST00000675045.1:c.2739A>G	ENSP00000502014.1:p.Gln913=
ENST00000675120.1:c.*1022A>G	ENSP00000502823.1:n.*1022A>G
ENST00000675133.1:c.2685A>G	ENSP00000502230.1:p.Gln895=
ENST00000675270.1:n.2847A>G
ENST00000675297.1:c.*1978A>G	ENSP00000502753.1:n.*1978A>G
ENST00000675371.1:c.*654A>G	ENSP00000502645.1:n.*654A>G
ENST00000675403.1:n.3632A>G
ENST00000675569.1:c.*1946A>G	ENSP00000502534.1:n.*1946A>G
ENST00000675588.1:n.1459A>G
ENST00000675643.1:c.2712A>G	ENSP00000502797.1:p.Gln904=
ENST00000675691.1:c.2583A>G	ENSP00000502196.1:p.Gln861=
ENST00000675751.1:c.*2071A>G	ENSP00000502277.1:n.*2071A>G
ENST00000675853.1:c.2760A>G	ENSP00000502367.1:p.Gln920=
ENST00000675917.1:n.3009A>G
ENST00000675953.1:c.2628A>G	ENSP00000502321.1:p.Gln876=
ENST00000675986.1:n.3202A>G
ENST00000676004.1:c.*2711A>G	ENSP00000502765.1:n.*2711A>G
ENST00000676040.1:c.*1946A>G	ENSP00000502108.1:n.*1946A>G
ENST00000676168.1:c.*322A>G	ENSP00000502479.1:n.*322A>G
ENST00000676209.1:c.*1064A>G	ENSP00000502052.1:n.*1064A>G
ENST00000676211.1:c.*1739A>G	ENSP00000502726.1:n.*1739A>G
ENST00000676212.1:c.*401A>G	ENSP00000501853.1:n.*401A>G
ENST00000676247.1:c.*1396A>G	ENSP00000502699.1:n.*1396A>G
ENST00000261772.12:c.2712A>G	ENSP00000261772.7:p.Gln904=
NM_001605.2:c.2712A>G , LRG_359t1:c.2712A>G	NP_001596.2:p.Gln904=
XR_933220.1:n.2678A>G
XR_933220.3:n.2637A>G
NM_001605.3:c.2712A>G MANE Select	NP_001596.2:p.Gln904=