Canonical Allele Identifier: CA1697778172

Gene: GARS1

Linked Data

• dbSNP Id: rs1783126878

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626331_30626332insTTGCT , CM000669.2:g.30626331_30626332insTTGCT	GRCh38
NC_000007.13:g.30665947_30665948insTTGCT , CM000669.1:g.30665947_30665948insTTGCT	GRCh37
NC_000007.12:g.30632472_30632473insTTGCT	NCBI36
NG_007942.1:g.36767_36768insTTGCT , LRG_243:g.36767_36768insTTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+12_1699+13insTTGCT MANE Select	ENSP00000373918.3:n.1699+12_1699+13insTTGCT
ENST00000444666.6:c.1699+12_1699+13insTTGCT	ENSP00000415447.2:n.1699+12_1699+13insTTGCT
ENST00000470392.2:n.1789+12_1789+13insTTGCT
ENST00000485784.2:n.1778+12_1778+13insTTGCT
ENST00000674616.1:c.*1413+12_*1413+13insTTGCT	ENSP00000502408.1:n.*1413+12_*1413+13insTTGCT
ENST00000674643.1:c.*799+12_*799+13insTTGCT	ENSP00000501636.1:n.*799+12_*799+13insTTGCT
ENST00000674737.1:c.*1037+12_*1037+13insTTGCT	ENSP00000502464.1:n.*1037+12_*1037+13insTTGCT
ENST00000674807.1:c.1614-2229_1614-2228insTTGCT	ENSP00000502814.1:n.1614-2229_1614-2228insTTGCT
ENST00000674815.1:c.1330+12_1330+13insTTGCT	ENSP00000502799.1:n.1330+12_1330+13insTTGCT
ENST00000674851.1:c.1330+12_1330+13insTTGCT	ENSP00000502451.1:n.1330+12_1330+13insTTGCT
ENST00000674969.1:n.3572+12_3572+13insTTGCT
ENST00000675051.1:c.1498+12_1498+13insTTGCT	ENSP00000502296.1:n.1498+12_1498+13insTTGCT
ENST00000675529.1:c.*1569+12_*1569+13insTTGCT	ENSP00000501655.1:n.*1569+12_*1569+13insTTGCT
ENST00000675587.1:n.2531+12_2531+13insTTGCT
ENST00000675651.1:c.1699+12_1699+13insTTGCT	ENSP00000502513.1:n.1699+12_1699+13insTTGCT
ENST00000675693.1:c.1531+12_1531+13insTTGCT	ENSP00000502174.1:n.1531+12_1531+13insTTGCT
ENST00000675810.1:c.1597+12_1597+13insTTGCT	ENSP00000502743.1:n.1597+12_1597+13insTTGCT
ENST00000675859.1:c.1614-2229_1614-2228insTTGCT	ENSP00000502033.1:n.1614-2229_1614-2228insTTGCT
ENST00000675863.1:n.1707+12_1707+13insTTGCT
ENST00000675886.1:n.7739+12_7739+13insTTGCT
ENST00000676088.1:c.*1641+12_*1641+13insTTGCT	ENSP00000501884.1:n.*1641+12_*1641+13insTTGCT
ENST00000676140.1:c.*644+12_*644+13insTTGCT	ENSP00000502571.1:n.*644+12_*644+13insTTGCT
ENST00000676164.1:c.*1150+12_*1150+13insTTGCT	ENSP00000501986.1:n.*1150+12_*1150+13insTTGCT
ENST00000676210.1:c.*988+12_*988+13insTTGCT	ENSP00000502373.1:n.*988+12_*988+13insTTGCT
ENST00000676259.1:c.*1131+12_*1131+13insTTGCT	ENSP00000501980.1:n.*1131+12_*1131+13insTTGCT
ENST00000676403.1:c.1699+12_1699+13insTTGCT	ENSP00000502681.1:n.1699+12_1699+13insTTGCT
ENST00000389266.7:c.1699+12_1699+13insTTGCT	ENSP00000373918.3:n.1699+12_1699+13insTTGCT
ENST00000444666.5:c.220+12_220+13insTTGCT	ENSP00000415447.1:n.220+12_220+13insTTGCT
ENST00000470392.1:n.421+12_421+13insTTGCT
NM_001316772.1:c.1537+12_1537+13insTTGCT	NP_001303701.1:n.1537+12_1537+13insTTGCT
NM_002047.2:c.1699+12_1699+13insTTGCT , LRG_243t1:c.1699+12_1699+13insTTGCT	NP_002038.2:n.1699+12_1699+13insTTGCT
NM_002047.3:c.1699+12_1699+13insTTGCT	NP_002038.2:n.1699+12_1699+13insTTGCT
XM_006715686.1:c.1330+12_1330+13insTTGCT	XP_006715749.1:n.1330+12_1330+13insTTGCT
XM_006715686.2:c.1330+12_1330+13insTTGCT	XP_006715749.1:n.1330+12_1330+13insTTGCT
NM_002047.4:c.1699+12_1699+13insTTGCT MANE Select	NP_002038.2:n.1699+12_1699+13insTTGCT