Canonical Allele Identifier: CA454246865

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651727A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612111A>G , CM000669.2:g.30612111A>G	GRCh38
NC_000007.13:g.30651727A>G , CM000669.1:g.30651727A>G	GRCh37
NC_000007.12:g.30618252A>G	NCBI36
NG_007942.1:g.22547A>G , LRG_243:g.22547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.897A>G MANE Select	ENSP00000373918.3:p.Glu299=
ENST00000444666.6:c.897A>G	ENSP00000415447.2:p.Glu299=
ENST00000470392.2:n.987A>G
ENST00000478124.6:n.960A>G
ENST00000485784.2:n.976A>G
ENST00000674616.1:c.*611A>G	ENSP00000502408.1:n.*611A>G
ENST00000674643.1:c.897A>G	ENSP00000501636.1:p.Glu299=
ENST00000674734.1:n.1393A>G
ENST00000674737.1:c.*235A>G	ENSP00000502464.1:n.*235A>G
ENST00000674807.1:c.897A>G	ENSP00000502814.1:p.Glu299=
ENST00000674815.1:c.528A>G	ENSP00000502799.1:p.Glu176=
ENST00000674851.1:c.528A>G	ENSP00000502451.1:p.Glu176=
ENST00000674969.1:n.2770A>G
ENST00000675051.1:c.696A>G	ENSP00000502296.1:p.Glu232=
ENST00000675529.1:c.*767A>G	ENSP00000501655.1:n.*767A>G
ENST00000675587.1:n.913A>G
ENST00000675651.1:c.897A>G	ENSP00000502513.1:p.Glu299=
ENST00000675693.1:c.729A>G	ENSP00000502174.1:p.Glu243=
ENST00000675810.1:c.795A>G	ENSP00000502743.1:p.Glu265=
ENST00000675859.1:c.897A>G	ENSP00000502033.1:p.Glu299=
ENST00000675863.1:n.905A>G
ENST00000675886.1:n.6937A>G
ENST00000676088.1:c.*839A>G	ENSP00000501884.1:n.*839A>G
ENST00000676140.1:c.897A>G	ENSP00000502571.1:p.Glu299=
ENST00000676164.1:c.*348A>G	ENSP00000501986.1:n.*348A>G
ENST00000676210.1:c.*186A>G	ENSP00000502373.1:n.*186A>G
ENST00000676259.1:c.*329A>G	ENSP00000501980.1:n.*329A>G
ENST00000676403.1:c.897A>G	ENSP00000502681.1:p.Glu299=
ENST00000389266.7:c.897A>G	ENSP00000373918.3:p.Glu299=
ENST00000478124.5:n.935A>G
NM_001316772.1:c.735A>G	NP_001303701.1:p.Glu245=
NM_002047.2:c.897A>G , LRG_243t1:c.897A>G	NP_002038.2:p.Glu299=
NM_002047.3:c.897A>G	NP_002038.2:p.Glu299=
XM_006715686.1:c.528A>G	XP_006715749.1:p.Glu176=
XM_006715686.2:c.528A>G	XP_006715749.1:p.Glu176=
NM_002047.4:c.897A>G MANE Select	NP_002038.2:p.Glu299=