Canonical Allele Identifier: CA367125505
Community Standard Title: NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612213G>C , CM000669.2:g.30612213G>C GRCh38
NC_000007.13:g.30651829G>C , CM000669.1:g.30651829G>C GRCh37
NC_000007.12:g.30618354G>C NCBI36
NG_007942.1:g.22649G>C , LRG_243:g.22649G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.999G>C MANE Select NP_002038.2:p.Glu333Asp
ENST00000389266.8:c.999G>C MANE Select ENSP00000373918.3:p.Glu333Asp
NM_001316772.1:c.837G>C NP_001303701.1:p.Glu279Asp
NM_002047.2:c.999G>C , LRG_243t1:c.999G>C NP_002038.2:p.Glu333Asp
NM_002047.3:c.999G>C NP_002038.2:p.Glu333Asp
ENST00000389266.7:c.999G>C ENSP00000373918.3:p.Glu333Asp
ENST00000444666.6:c.999G>C ENSP00000415447.2:p.Glu333Asp
ENST00000470392.2:n.1089G>C
ENST00000478124.5:n.1037G>C
ENST00000478124.6:n.1062G>C
ENST00000485784.2:n.1078G>C
ENST00000674616.1:c.*713G>C ENSP00000502408.1:n.*713G>C
ENST00000674643.1:c.999G>C ENSP00000501636.1:p.Glu333Asp
ENST00000674734.1:n.1495G>C
ENST00000674737.1:c.*337G>C ENSP00000502464.1:n.*337G>C
ENST00000674807.1:c.999G>C ENSP00000502814.1:p.Glu333Asp
ENST00000674815.1:c.630G>C ENSP00000502799.1:p.Glu210Asp
ENST00000674851.1:c.630G>C ENSP00000502451.1:p.Glu210Asp
ENST00000674969.1:n.2872G>C
ENST00000675051.1:c.798G>C ENSP00000502296.1:p.Glu266Asp
ENST00000675529.1:c.*869G>C ENSP00000501655.1:n.*869G>C
ENST00000675587.1:n.1015G>C
ENST00000675651.1:c.999G>C ENSP00000502513.1:p.Glu333Asp
ENST00000675693.1:c.831G>C ENSP00000502174.1:p.Glu277Asp
ENST00000675810.1:c.897G>C ENSP00000502743.1:p.Glu299Asp
ENST00000675859.1:c.999G>C ENSP00000502033.1:p.Glu333Asp
ENST00000675863.1:n.1007G>C
ENST00000675886.1:n.7039G>C
ENST00000676088.1:c.*941G>C ENSP00000501884.1:n.*941G>C
ENST00000676140.1:c.999G>C ENSP00000502571.1:p.Glu333Asp
ENST00000676164.1:c.*450G>C ENSP00000501986.1:n.*450G>C
ENST00000676210.1:c.*288G>C ENSP00000502373.1:n.*288G>C
ENST00000676259.1:c.*431G>C ENSP00000501980.1:n.*431G>C
ENST00000676403.1:c.999G>C ENSP00000502681.1:p.Glu333Asp
XM_006715686.1:c.630G>C XP_006715749.1:p.Glu210Asp
XM_006715686.2:c.630G>C XP_006715749.1:p.Glu210Asp