Canonical Allele Identifier: CA8140548

Gene: AARS1

Linked Data

• dbSNP Id: rs759539939
• ExAC: 16:70291954 A / G
• gnomAD v2: 16-70291954-A-G
• gnomAD v4: 16-70258051-A-G
• MyVariant Identifiers: chr16:g.70291954A>G (hg19) ; chr16:g.70258051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258051A>G , CM000678.2:g.70258051A>G	GRCh38
NC_000016.9:g.70291954A>G , CM000678.1:g.70291954A>G	GRCh37
NC_000016.8:g.68849455A>G	NCBI36
NG_023191.1:g.36459T>C , LRG_359:g.36459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2159T>C MANE Select	ENSP00000261772.8:p.Val720Ala
ENST00000564359.6:n.2150+929T>C
ENST00000565361.3:c.2159T>C	ENSP00000455360.3:p.Val720Ala
ENST00000674512.1:c.2138T>C	ENSP00000501613.1:p.Val713Ala
ENST00000674652.1:c.*1948T>C	ENSP00000502620.1:n.*1948T>C
ENST00000674691.1:c.2159T>C	ENSP00000502247.1:p.Val720Ala
ENST00000674768.1:c.*414T>C	ENSP00000501679.1:n.*414T>C
ENST00000674811.1:c.*352T>C	ENSP00000502055.1:n.*352T>C
ENST00000674848.1:n.2208T>C
ENST00000674962.1:n.2317T>C
ENST00000674963.1:c.2159T>C	ENSP00000501924.1:p.Val720Ala
ENST00000675035.1:c.2157+2T>C	ENSP00000502712.1:n.2157+2T>C
ENST00000675045.1:c.2186T>C	ENSP00000502014.1:p.Val729Ala
ENST00000675120.1:c.*469T>C	ENSP00000502823.1:n.*469T>C
ENST00000675133.1:c.2132T>C	ENSP00000502230.1:p.Val711Ala
ENST00000675270.1:n.2294T>C
ENST00000675297.1:c.*511T>C	ENSP00000502753.1:n.*511T>C
ENST00000675371.1:c.1992+929T>C	ENSP00000502645.1:n.1992+929T>C
ENST00000675403.1:n.3079T>C
ENST00000675569.1:c.*1393T>C	ENSP00000502534.1:n.*1393T>C
ENST00000675643.1:c.2159T>C	ENSP00000502797.1:p.Val720Ala
ENST00000675691.1:c.2030T>C	ENSP00000502196.1:p.Val677Ala
ENST00000675751.1:c.*1186T>C	ENSP00000502277.1:n.*1186T>C
ENST00000675853.1:c.2159T>C	ENSP00000502367.1:p.Val720Ala
ENST00000675917.1:n.2456T>C
ENST00000675953.1:c.2075T>C	ENSP00000502321.1:p.Val692Ala
ENST00000675986.1:n.2317T>C
ENST00000676004.1:c.*2158T>C	ENSP00000502765.1:n.*2158T>C
ENST00000676040.1:c.*1393T>C	ENSP00000502108.1:n.*1393T>C
ENST00000676168.1:c.1992+929T>C	ENSP00000502479.1:n.1992+929T>C
ENST00000676209.1:c.*511T>C	ENSP00000502052.1:n.*511T>C
ENST00000676211.1:c.*1186T>C	ENSP00000502726.1:n.*1186T>C
ENST00000676212.1:c.2159T>C	ENSP00000501853.1:p.Val720Ala
ENST00000676247.1:c.*511T>C	ENSP00000502699.1:n.*511T>C
ENST00000261772.12:c.2159T>C	ENSP00000261772.7:p.Val720Ala
ENST00000564359.5:n.488+929T>C
ENST00000565361.2:c.504T>C
ENST00000569825.1:n.165T>C
NM_001605.2:c.2159T>C , LRG_359t1:c.2159T>C	NP_001596.2:p.Val720Ala
XR_933220.1:n.2143+929T>C
XR_933220.3:n.2102+929T>C
NM_001605.3:c.2159T>C MANE Select	NP_001596.2:p.Val720Ala