Canonical Allele Identifier: CA2573137163

Gene: QARS1

Linked Data

• ClinVar Variation Id: 1447108
• ClinVar RCV Id: RCV002562963
• dbSNP Id: rs2107114987

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49104637_49104638delinsTT , CM000665.2:g.49104637_49104638delinsTT	GRCh38
NC_000003.11:g.49142070_49142071delinsTT , CM000665.1:g.49142070_49142071delinsTT	GRCh37
NC_000003.10:g.49117074_49117075delinsTT	NCBI36
NG_042312.1:g.5492_5493delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.96_97delinsAA MANE Select	ENSP00000307567.6:p.Leu33Met
ENST00000306125.11:c.96_97delinsAA	ENSP00000307567.6:p.Leu33Met
ENST00000414533.5:c.96_97delinsAA	ENSP00000390015.1:p.Leu33Met
ENST00000417025.2:n.122_123delinsAA
ENST00000418549.3:c.96_97delinsAA	ENSP00000415247.1:p.Leu33Met
ENST00000430182.5:c.96_97delinsAA	ENSP00000389823.1:p.Leu33Met
ENST00000452739.5:c.96_97delinsAA	ENSP00000392850.2:p.Leu33Met
ENST00000470619.6:n.115_116delinsAA
ENST00000479495.5:n.98-167_98-166delinsAA
ENST00000482261.7:n.172_173delinsAA
ENST00000482438.2:n.122_123delinsAA
ENST00000494767.2:c.96_97delinsAA	ENSP00000489170.1:p.Leu33Met
ENST00000634359.1:n.198-167_198-166delinsAA
ENST00000634527.1:c.-318-167_-318-166delinsAA	ENSP00000489039.1:n.-318-167_-318-166delinsAA
ENST00000634602.1:c.96_97delinsAA	ENSP00000489082.1:p.Leu33Met
ENST00000634609.1:n.121_122delinsAA
ENST00000634724.1:n.120_121delinsAA
ENST00000634802.1:c.96_97delinsAA	ENSP00000488917.1:p.Leu33Met
ENST00000634953.1:n.123_124delinsAA
ENST00000635052.1:c.96_97delinsAA	ENSP00000489409.1:p.Leu33Met
ENST00000635194.1:c.96_97delinsAA	ENSP00000488960.1:p.Leu33Met
ENST00000635231.1:c.81+15_81+16delinsAA	ENSP00000489550.1:n.81+15_81+16delinsAA
ENST00000635278.1:n.120_121delinsAA
ENST00000635443.1:c.96_97delinsAA	ENSP00000489154.1:p.Leu33Met
ENST00000635494.1:c.96_97delinsAA	ENSP00000489331.1:p.Leu33Met
ENST00000635501.1:n.486_487delinsAA
ENST00000635622.1:c.-368_-367delinsAA	ENSP00000489558.1:n.-368_-367delinsAA
NM_001272073.1:c.96_97delinsAA	NP_001259002.1:p.Leu33Met
NM_005051.2:c.96_97delinsAA	NP_005042.1:p.Leu33Met
NR_073590.1:n.492_493delinsAA
XM_011533973.1:c.150_151delinsAA	XP_011532275.1:p.Leu51Met
XM_017006965.2:c.96_97delinsAA	XP_016862454.2:p.Leu33Met
NM_005051.3:c.96_97delinsAA MANE Select	NP_005042.1:p.Leu33Met
NM_001272073.2:c.96_97delinsAA	NP_001259002.1:p.Leu33Met
NR_073590.2:n.120_121delinsAA