Canonical Allele Identifier: CA16617988
Gene: QARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421411
dbSNP Id: rs1064795119

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49099585del , CM000665.2:g.49099585del GRCh38
NC_000003.11:g.49137018del , CM000665.1:g.49137018del GRCh37
NC_000003.10:g.49112022del NCBI36
NG_042312.1:g.10545del

Transcript Alleles

HGVS Amino-acid change
ENST00000306125.12:c.1451del MANE Select ENSP00000307567.6:p.Tyr484LeufsTer20
ENST00000636018.1:c.1234del ENSP00000489930.1:n.1234del
ENST00000636669.1:c.1283del ENSP00000490664.1:p.Tyr428LeufsTer20
ENST00000637113.1:n.424del
ENST00000637281.1:c.339del
ENST00000637543.1:n.1291del
ENST00000306125.11:c.1451del ENSP00000307567.6:p.Tyr484LeufsTer20
ENST00000414533.5:c.1418del ENSP00000390015.1:p.Tyr473LeufsTer20
ENST00000430182.5:c.*1099del ENSP00000389823.1:n.*1099del
ENST00000453392.5:c.11del ENSP00000396326.1:p.Tyr4LeufsTer20
ENST00000464962.6:c.1016del ENSP00000489011.1:p.Tyr339LeufsTer20
ENST00000482468.6:n.298del
ENST00000634432.1:c.405del
NM_001272073.1:c.1418del NP_001259002.1:p.Tyr473LeufsTer20
NM_005051.2:c.1451del NP_005042.1:p.Tyr484LeufsTer20
NR_073590.1:n.1798del
XM_011533973.1:c.*62del XP_011532275.1:n.*62del
XM_017006965.2:c.1451del XP_016862454.2:p.Tyr484LeufsTer20
NM_005051.3:c.1451del MANE Select NP_005042.1:p.Tyr484LeufsTer20
NM_001272073.2:c.1418del NP_001259002.1:p.Tyr473LeufsTer20
NR_073590.2:n.1426del