Canonical Allele Identifier: CA1697769598
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30621448A= , CM000669.2:g.30621448A= GRCh38
NC_000007.13:g.30661064A= , CM000669.1:g.30661064A= GRCh37
NC_000007.12:g.30627589A= NCBI36
NG_007942.1:g.31884A= , LRG_243:g.31884A=

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.1415A= MANE Select NP_002038.2:p.His472=
ENST00000389266.8:c.1415A= MANE Select ENSP00000373918.3:p.His472=
NM_001316772.1:c.1253A= NP_001303701.1:p.His418=
NM_002047.2:c.1415A= , LRG_243t1:c.1415A= NP_002038.2:p.His472=
NM_002047.3:c.1415A= NP_002038.2:p.His472=
ENST00000389266.7:c.1415A= ENSP00000373918.3:p.His472=
ENST00000444666.6:c.1415A= ENSP00000415447.2:p.His472=
ENST00000470392.2:n.1505A=
ENST00000478124.5:n.1453A=
ENST00000478124.6:n.1478A=
ENST00000484093.1:n.414A=
ENST00000485784.2:n.1494A=
ENST00000674616.1:c.*1129A= ENSP00000502408.1:n.*1129A=
ENST00000674643.1:c.*515A= ENSP00000501636.1:n.*515A=
ENST00000674734.1:n.1911A=
ENST00000674737.1:c.*753A= ENSP00000502464.1:n.*753A=
ENST00000674807.1:c.1415A= ENSP00000502814.1:p.His472=
ENST00000674815.1:c.1046A= ENSP00000502799.1:p.His349=
ENST00000674851.1:c.1046A= ENSP00000502451.1:p.His349=
ENST00000674969.1:n.3288A=
ENST00000675051.1:c.1214A= ENSP00000502296.1:p.His405=
ENST00000675529.1:c.*1285A= ENSP00000501655.1:n.*1285A=
ENST00000675587.1:n.1431A=
ENST00000675651.1:c.1415A= ENSP00000502513.1:p.His472=
ENST00000675693.1:c.1247A= ENSP00000502174.1:p.His416=
ENST00000675810.1:c.1313A= ENSP00000502743.1:p.His438=
ENST00000675859.1:c.1415A= ENSP00000502033.1:p.His472=
ENST00000675863.1:n.1423A=
ENST00000675886.1:n.7455A=
ENST00000676088.1:c.*1357A= ENSP00000501884.1:n.*1357A=
ENST00000676140.1:c.*360A= ENSP00000502571.1:n.*360A=
ENST00000676164.1:c.*866A= ENSP00000501986.1:n.*866A=
ENST00000676210.1:c.*704A= ENSP00000502373.1:n.*704A=
ENST00000676259.1:c.*847A= ENSP00000501980.1:n.*847A=
ENST00000676403.1:c.1415A= ENSP00000502681.1:p.His472=
XM_006715686.1:c.1046A= XP_006715749.1:p.His349=
XM_006715686.2:c.1046A= XP_006715749.1:p.His349=