Canonical Allele Identifier: CA1697811239
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612224G= , CM000669.2:g.30612224G= GRCh38
NC_000007.13:g.30651840G= , CM000669.1:g.30651840G= GRCh37
NC_000007.12:g.30618365G= NCBI36
NG_007942.1:g.22660G= , LRG_243:g.22660G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1010G= MANE Select ENSP00000373918.3:p.Arg337=
ENST00000444666.6:c.1010G= ENSP00000415447.2:p.Arg337=
ENST00000470392.2:n.1100G=
ENST00000478124.6:n.1073G=
ENST00000485784.2:n.1089G=
ENST00000674616.1:c.*724G= ENSP00000502408.1:n.*724G=
ENST00000674643.1:c.1010G= ENSP00000501636.1:p.Arg337=
ENST00000674734.1:n.1506G=
ENST00000674737.1:c.*348G= ENSP00000502464.1:n.*348G=
ENST00000674807.1:c.1010G= ENSP00000502814.1:p.Arg337=
ENST00000674815.1:c.641G= ENSP00000502799.1:p.Arg214=
ENST00000674851.1:c.641G= ENSP00000502451.1:p.Arg214=
ENST00000674969.1:n.2883G=
ENST00000675051.1:c.809G= ENSP00000502296.1:p.Arg270=
ENST00000675529.1:c.*880G= ENSP00000501655.1:n.*880G=
ENST00000675587.1:n.1026G=
ENST00000675651.1:c.1010G= ENSP00000502513.1:p.Arg337=
ENST00000675693.1:c.842G= ENSP00000502174.1:p.Arg281=
ENST00000675810.1:c.908G= ENSP00000502743.1:p.Arg303=
ENST00000675859.1:c.1010G= ENSP00000502033.1:p.Arg337=
ENST00000675863.1:n.1018G=
ENST00000675886.1:n.7050G=
ENST00000676088.1:c.*952G= ENSP00000501884.1:n.*952G=
ENST00000676140.1:c.1010G= ENSP00000502571.1:p.Arg337=
ENST00000676164.1:c.*461G= ENSP00000501986.1:n.*461G=
ENST00000676210.1:c.*299G= ENSP00000502373.1:n.*299G=
ENST00000676259.1:c.*442G= ENSP00000501980.1:n.*442G=
ENST00000676403.1:c.1010G= ENSP00000502681.1:p.Arg337=
ENST00000389266.7:c.1010G= ENSP00000373918.3:p.Arg337=
ENST00000478124.5:n.1048G=
NM_001316772.1:c.848G= NP_001303701.1:p.Arg283=
NM_002047.2:c.1010G= , LRG_243t1:c.1010G= NP_002038.2:p.Arg337=
NM_002047.3:c.1010G= NP_002038.2:p.Arg337=
XM_006715686.1:c.641G= XP_006715749.1:p.Arg214=
XM_006715686.2:c.641G= XP_006715749.1:p.Arg214=
NM_002047.4:c.1010G= MANE Select NP_002038.2:p.Arg337=