Canonical Allele Identifier: CA1697769533
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30621424G= , CM000669.2:g.30621424G= GRCh38
NC_000007.13:g.30661040G= , CM000669.1:g.30661040G= GRCh37
NC_000007.12:g.30627565G= NCBI36
NG_007942.1:g.31860G= , LRG_243:g.31860G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1391G= MANE Select ENSP00000373918.3:p.Arg464=
ENST00000444666.6:c.1391G= ENSP00000415447.2:p.Arg464=
ENST00000470392.2:n.1481G=
ENST00000478124.6:n.1454G=
ENST00000485784.2:n.1470G=
ENST00000674616.1:c.*1105G= ENSP00000502408.1:n.*1105G=
ENST00000674643.1:c.*491G= ENSP00000501636.1:n.*491G=
ENST00000674734.1:n.1887G=
ENST00000674737.1:c.*729G= ENSP00000502464.1:n.*729G=
ENST00000674807.1:c.1391G= ENSP00000502814.1:p.Arg464=
ENST00000674815.1:c.1022G= ENSP00000502799.1:p.Arg341=
ENST00000674851.1:c.1022G= ENSP00000502451.1:p.Arg341=
ENST00000674969.1:n.3264G=
ENST00000675051.1:c.1190G= ENSP00000502296.1:p.Arg397=
ENST00000675529.1:c.*1261G= ENSP00000501655.1:n.*1261G=
ENST00000675587.1:n.1407G=
ENST00000675651.1:c.1391G= ENSP00000502513.1:p.Arg464=
ENST00000675693.1:c.1223G= ENSP00000502174.1:p.Arg408=
ENST00000675810.1:c.1289G= ENSP00000502743.1:p.Arg430=
ENST00000675859.1:c.1391G= ENSP00000502033.1:p.Arg464=
ENST00000675863.1:n.1399G=
ENST00000675886.1:n.7431G=
ENST00000676088.1:c.*1333G= ENSP00000501884.1:n.*1333G=
ENST00000676140.1:c.*336G= ENSP00000502571.1:n.*336G=
ENST00000676164.1:c.*842G= ENSP00000501986.1:n.*842G=
ENST00000676210.1:c.*680G= ENSP00000502373.1:n.*680G=
ENST00000676259.1:c.*823G= ENSP00000501980.1:n.*823G=
ENST00000676403.1:c.1391G= ENSP00000502681.1:p.Arg464=
ENST00000389266.7:c.1391G= ENSP00000373918.3:p.Arg464=
ENST00000478124.5:n.1429G=
ENST00000484093.1:n.390G=
NM_001316772.1:c.1229G= NP_001303701.1:p.Arg410=
NM_002047.2:c.1391G= , LRG_243t1:c.1391G= NP_002038.2:p.Arg464=
NM_002047.3:c.1391G= NP_002038.2:p.Arg464=
XM_006715686.1:c.1022G= XP_006715749.1:p.Arg341=
XM_006715686.2:c.1022G= XP_006715749.1:p.Arg341=
NM_002047.4:c.1391G= MANE Select NP_002038.2:p.Arg464=