Canonical Allele Identifier: CA1697811488
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612512T= , CM000669.2:g.30612512T= GRCh38
NC_000007.13:g.30652128T= , CM000669.1:g.30652128T= GRCh37
NC_000007.12:g.30618653T= NCBI36
NG_007942.1:g.22948T= , LRG_243:g.22948T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1031+267T= MANE Select ENSP00000373918.3:n.1031+267T=
ENST00000444666.6:c.1031+267T= ENSP00000415447.2:n.1031+267T=
ENST00000470392.2:n.1121+267T=
ENST00000478124.6:n.1094+267T=
ENST00000485784.2:n.1110+267T=
ENST00000674616.1:c.*745+267T= ENSP00000502408.1:n.*745+267T=
ENST00000674643.1:c.1031+267T= ENSP00000501636.1:n.1031+267T=
ENST00000674734.1:n.1527+267T=
ENST00000674737.1:c.*369+267T= ENSP00000502464.1:n.*369+267T=
ENST00000674807.1:c.1031+267T= ENSP00000502814.1:n.1031+267T=
ENST00000674815.1:c.662+267T= ENSP00000502799.1:n.662+267T=
ENST00000674851.1:c.662+267T= ENSP00000502451.1:n.662+267T=
ENST00000674969.1:n.2904+267T=
ENST00000675051.1:c.830+267T= ENSP00000502296.1:n.830+267T=
ENST00000675529.1:c.*901+267T= ENSP00000501655.1:n.*901+267T=
ENST00000675587.1:n.1047+267T=
ENST00000675651.1:c.1031+267T= ENSP00000502513.1:n.1031+267T=
ENST00000675693.1:c.863+267T= ENSP00000502174.1:n.863+267T=
ENST00000675810.1:c.929+267T= ENSP00000502743.1:n.929+267T=
ENST00000675859.1:c.1031+267T= ENSP00000502033.1:n.1031+267T=
ENST00000675863.1:n.1039+267T=
ENST00000675886.1:n.7071+267T=
ENST00000676088.1:c.*973+267T= ENSP00000501884.1:n.*973+267T=
ENST00000676140.1:c.1031+267T= ENSP00000502571.1:n.1031+267T=
ENST00000676164.1:c.*482+267T= ENSP00000501986.1:n.*482+267T=
ENST00000676210.1:c.*320+267T= ENSP00000502373.1:n.*320+267T=
ENST00000676259.1:c.*463+267T= ENSP00000501980.1:n.*463+267T=
ENST00000676403.1:c.1031+267T= ENSP00000502681.1:n.1031+267T=
ENST00000389266.7:c.1031+267T= ENSP00000373918.3:n.1031+267T=
ENST00000478124.5:n.1069+267T=
NM_001316772.1:c.869+267T= NP_001303701.1:n.869+267T=
NM_002047.2:c.1031+267T= , LRG_243t1:c.1031+267T= NP_002038.2:n.1031+267T=
NM_002047.3:c.1031+267T= NP_002038.2:n.1031+267T=
XM_006715686.1:c.662+267T= XP_006715749.1:n.662+267T=
XM_006715686.2:c.662+267T= XP_006715749.1:n.662+267T=
NM_002047.4:c.1031+267T= MANE Select NP_002038.2:n.1031+267T=