Canonical Allele Identifier: CA1697807574
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609633A= , CM000669.2:g.30609633A= GRCh38
NC_000007.13:g.30649249A= , CM000669.1:g.30649249A= GRCh37
NC_000007.12:g.30615774A= NCBI36
NG_007942.1:g.20069A= , LRG_243:g.20069A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.784A= MANE Select ENSP00000373918.3:p.Asn262=
ENST00000444666.6:c.784A= ENSP00000415447.2:p.Asn262=
ENST00000470392.2:n.874A=
ENST00000478124.6:n.847A=
ENST00000485784.2:n.863A=
ENST00000674616.1:c.*498A= ENSP00000502408.1:n.*498A=
ENST00000674643.1:c.784A= ENSP00000501636.1:p.Asn262=
ENST00000674734.1:n.1280A=
ENST00000674737.1:c.*122A= ENSP00000502464.1:n.*122A=
ENST00000674807.1:c.784A= ENSP00000502814.1:p.Asn262=
ENST00000674815.1:c.415A= ENSP00000502799.1:p.Asn139=
ENST00000674851.1:c.415A= ENSP00000502451.1:p.Asn139=
ENST00000674969.1:n.2657A=
ENST00000675051.1:c.583A= ENSP00000502296.1:p.Asn195=
ENST00000675529.1:c.*654A= ENSP00000501655.1:n.*654A=
ENST00000675587.1:n.800A=
ENST00000675651.1:c.784A= ENSP00000502513.1:p.Asn262=
ENST00000675693.1:c.616A= ENSP00000502174.1:p.Asn206=
ENST00000675810.1:c.682A= ENSP00000502743.1:p.Asn228=
ENST00000675859.1:c.784A= ENSP00000502033.1:p.Asn262=
ENST00000675863.1:n.792A=
ENST00000675886.1:n.6824A=
ENST00000676088.1:c.*726A= ENSP00000501884.1:n.*726A=
ENST00000676140.1:c.784A= ENSP00000502571.1:p.Asn262=
ENST00000676164.1:c.*235A= ENSP00000501986.1:n.*235A=
ENST00000676210.1:c.*73A= ENSP00000502373.1:n.*73A=
ENST00000676259.1:c.*216A= ENSP00000501980.1:n.*216A=
ENST00000676403.1:c.784A= ENSP00000502681.1:p.Asn262=
ENST00000389266.7:c.784A= ENSP00000373918.3:p.Asn262=
ENST00000478124.5:n.822A=
NM_001316772.1:c.622A= NP_001303701.1:p.Asn208=
NM_002047.2:c.784A= , LRG_243t1:c.784A= NP_002038.2:p.Asn262=
NM_002047.3:c.784A= NP_002038.2:p.Asn262=
XM_006715686.1:c.415A= XP_006715749.1:p.Asn139=
XM_006715686.2:c.415A= XP_006715749.1:p.Asn139=
NM_002047.4:c.784A= MANE Select NP_002038.2:p.Asn262=