Canonical Allele Identifier: CA2546839643
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612142_30612143insATTTTCATA , CM000669.2:g.30612142_30612143insATTTTCATA GRCh38
NC_000007.13:g.30651758_30651759insATTTTCATA , CM000669.1:g.30651758_30651759insATTTTCATA GRCh37
NC_000007.12:g.30618283_30618284insATTTTCATA NCBI36
NG_007942.1:g.22578_22579insATTTTCATA , LRG_243:g.22578_22579insATTTTCATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.928_929insATTTTCATA MANE Select ENSP00000373918.3:p.Lys309_Arg310insHisPheHis
ENST00000444666.6:c.928_929insATTTTCATA ENSP00000415447.2:p.Lys309_Arg310insHisPheHis
ENST00000470392.2:n.1018_1019insATTTTCATA
ENST00000478124.6:n.991_992insATTTTCATA
ENST00000485784.2:n.1007_1008insATTTTCATA
ENST00000674616.1:c.*642_*643insATTTTCATA ENSP00000502408.1:n.*642_*643insATTTTCATA
ENST00000674643.1:c.928_929insATTTTCATA ENSP00000501636.1:p.Lys309_Arg310insHisPheHis
ENST00000674734.1:n.1424_1425insATTTTCATA
ENST00000674737.1:c.*266_*267insATTTTCATA ENSP00000502464.1:n.*266_*267insATTTTCATA
ENST00000674807.1:c.928_929insATTTTCATA ENSP00000502814.1:p.Lys309_Arg310insHisPheHis
ENST00000674815.1:c.559_560insATTTTCATA ENSP00000502799.1:p.Lys186_Arg187insHisPheHis
ENST00000674851.1:c.559_560insATTTTCATA ENSP00000502451.1:p.Lys186_Arg187insHisPheHis
ENST00000674969.1:n.2801_2802insATTTTCATA
ENST00000675051.1:c.727_728insATTTTCATA ENSP00000502296.1:p.Lys242_Arg243insHisPheHis
ENST00000675529.1:c.*798_*799insATTTTCATA ENSP00000501655.1:n.*798_*799insATTTTCATA
ENST00000675587.1:n.944_945insATTTTCATA
ENST00000675651.1:c.928_929insATTTTCATA ENSP00000502513.1:p.Lys309_Arg310insHisPheHis
ENST00000675693.1:c.760_761insATTTTCATA ENSP00000502174.1:p.Lys253_Arg254insHisPheHis
ENST00000675810.1:c.826_827insATTTTCATA ENSP00000502743.1:p.Lys275_Arg276insHisPheHis
ENST00000675859.1:c.928_929insATTTTCATA ENSP00000502033.1:p.Lys309_Arg310insHisPheHis
ENST00000675863.1:n.936_937insATTTTCATA
ENST00000675886.1:n.6968_6969insATTTTCATA
ENST00000676088.1:c.*870_*871insATTTTCATA ENSP00000501884.1:n.*870_*871insATTTTCATA
ENST00000676140.1:c.928_929insATTTTCATA ENSP00000502571.1:p.Lys309_Arg310insHisPheHis
ENST00000676164.1:c.*379_*380insATTTTCATA ENSP00000501986.1:n.*379_*380insATTTTCATA
ENST00000676210.1:c.*217_*218insATTTTCATA ENSP00000502373.1:n.*217_*218insATTTTCATA
ENST00000676259.1:c.*360_*361insATTTTCATA ENSP00000501980.1:n.*360_*361insATTTTCATA
ENST00000676403.1:c.928_929insATTTTCATA ENSP00000502681.1:p.Lys309_Arg310insHisPheHis
ENST00000389266.7:c.928_929insATTTTCATA ENSP00000373918.3:p.Lys309_Arg310insHisPheHis
ENST00000478124.5:n.966_967insATTTTCATA
NM_001316772.1:c.766_767insATTTTCATA NP_001303701.1:p.Lys255_Arg256insHisPheHis
NM_002047.2:c.928_929insATTTTCATA , LRG_243t1:c.928_929insATTTTCATA NP_002038.2:p.Lys309_Arg310insHisPheHis
NM_002047.3:c.928_929insATTTTCATA NP_002038.2:p.Lys309_Arg310insHisPheHis
XM_006715686.1:c.559_560insATTTTCATA XP_006715749.1:p.Lys186_Arg187insHisPheHis
XM_006715686.2:c.559_560insATTTTCATA XP_006715749.1:p.Lys186_Arg187insHisPheHis
NM_002047.4:c.928_929insATTTTCATA MANE Select NP_002038.2:p.Lys309_Arg310insHisPheHis