Canonical Allele Identifier: CA1697778055
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30626280G= , CM000669.2:g.30626280G= GRCh38
NC_000007.13:g.30665896G= , CM000669.1:g.30665896G= GRCh37
NC_000007.12:g.30632421G= NCBI36
NG_007942.1:g.36716G= , LRG_243:g.36716G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1660G= MANE Select ENSP00000373918.3:p.Asp554=
ENST00000444666.6:c.1660G= ENSP00000415447.2:p.Asp554=
ENST00000470392.2:n.1750G=
ENST00000485784.2:n.1739G=
ENST00000674616.1:c.*1374G= ENSP00000502408.1:n.*1374G=
ENST00000674643.1:c.*760G= ENSP00000501636.1:n.*760G=
ENST00000674737.1:c.*998G= ENSP00000502464.1:n.*998G=
ENST00000674807.1:c.1614-2280G= ENSP00000502814.1:n.1614-2280G=
ENST00000674815.1:c.1291G= ENSP00000502799.1:p.Asp431=
ENST00000674851.1:c.1291G= ENSP00000502451.1:p.Asp431=
ENST00000674969.1:n.3533G=
ENST00000675051.1:c.1459G= ENSP00000502296.1:p.Asp487=
ENST00000675529.1:c.*1530G= ENSP00000501655.1:n.*1530G=
ENST00000675587.1:n.2492G=
ENST00000675651.1:c.1660G= ENSP00000502513.1:p.Asp554=
ENST00000675693.1:c.1492G= ENSP00000502174.1:p.Asp498=
ENST00000675810.1:c.1558G= ENSP00000502743.1:p.Asp520=
ENST00000675859.1:c.1614-2280G= ENSP00000502033.1:n.1614-2280G=
ENST00000675863.1:n.1668G=
ENST00000675886.1:n.7700G=
ENST00000676088.1:c.*1602G= ENSP00000501884.1:n.*1602G=
ENST00000676140.1:c.*605G= ENSP00000502571.1:n.*605G=
ENST00000676164.1:c.*1111G= ENSP00000501986.1:n.*1111G=
ENST00000676210.1:c.*949G= ENSP00000502373.1:n.*949G=
ENST00000676259.1:c.*1092G= ENSP00000501980.1:n.*1092G=
ENST00000676403.1:c.1660G= ENSP00000502681.1:p.Asp554=
ENST00000389266.7:c.1660G= ENSP00000373918.3:p.Asp554=
ENST00000444666.5:c.181G= ENSP00000415447.1:p.Asp61=
ENST00000470392.1:n.382G=
NM_001316772.1:c.1498G= NP_001303701.1:p.Asp500=
NM_002047.2:c.1660G= , LRG_243t1:c.1660G= NP_002038.2:p.Asp554=
NM_002047.3:c.1660G= NP_002038.2:p.Asp554=
XM_006715686.1:c.1291G= XP_006715749.1:p.Asp431=
XM_006715686.2:c.1291G= XP_006715749.1:p.Asp431=
NM_002047.4:c.1660G= MANE Select NP_002038.2:p.Asp554=