Canonical Allele Identifier: CA1697811160
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612212A= , CM000669.2:g.30612212A= GRCh38
NC_000007.13:g.30651828A= , CM000669.1:g.30651828A= GRCh37
NC_000007.12:g.30618353A= NCBI36
NG_007942.1:g.22648A= , LRG_243:g.22648A=

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.998A= MANE Select NP_002038.2:p.Glu333=
ENST00000389266.8:c.998A= MANE Select ENSP00000373918.3:p.Glu333=
NM_001316772.1:c.836A= NP_001303701.1:p.Glu279=
NM_002047.2:c.998A= , LRG_243t1:c.998A= NP_002038.2:p.Glu333=
NM_002047.3:c.998A= NP_002038.2:p.Glu333=
ENST00000389266.7:c.998A= ENSP00000373918.3:p.Glu333=
ENST00000444666.6:c.998A= ENSP00000415447.2:p.Glu333=
ENST00000470392.2:n.1088A=
ENST00000478124.5:n.1036A=
ENST00000478124.6:n.1061A=
ENST00000485784.2:n.1077A=
ENST00000674616.1:c.*712A= ENSP00000502408.1:n.*712A=
ENST00000674643.1:c.998A= ENSP00000501636.1:p.Glu333=
ENST00000674734.1:n.1494A=
ENST00000674737.1:c.*336A= ENSP00000502464.1:n.*336A=
ENST00000674807.1:c.998A= ENSP00000502814.1:p.Glu333=
ENST00000674815.1:c.629A= ENSP00000502799.1:p.Glu210=
ENST00000674851.1:c.629A= ENSP00000502451.1:p.Glu210=
ENST00000674969.1:n.2871A=
ENST00000675051.1:c.797A= ENSP00000502296.1:p.Glu266=
ENST00000675529.1:c.*868A= ENSP00000501655.1:n.*868A=
ENST00000675587.1:n.1014A=
ENST00000675651.1:c.998A= ENSP00000502513.1:p.Glu333=
ENST00000675693.1:c.830A= ENSP00000502174.1:p.Glu277=
ENST00000675810.1:c.896A= ENSP00000502743.1:p.Glu299=
ENST00000675859.1:c.998A= ENSP00000502033.1:p.Glu333=
ENST00000675863.1:n.1006A=
ENST00000675886.1:n.7038A=
ENST00000676088.1:c.*940A= ENSP00000501884.1:n.*940A=
ENST00000676140.1:c.998A= ENSP00000502571.1:p.Glu333=
ENST00000676164.1:c.*449A= ENSP00000501986.1:n.*449A=
ENST00000676210.1:c.*287A= ENSP00000502373.1:n.*287A=
ENST00000676259.1:c.*430A= ENSP00000501980.1:n.*430A=
ENST00000676403.1:c.998A= ENSP00000502681.1:p.Glu333=
XM_006715686.1:c.629A= XP_006715749.1:p.Glu210=
XM_006715686.2:c.629A= XP_006715749.1:p.Glu210=