Canonical Allele Identifier: CA367124859

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651728A>G (hg19) ; chr7:g.30612112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612112A>G , CM000669.2:g.30612112A>G	GRCh38
NC_000007.13:g.30651728A>G , CM000669.1:g.30651728A>G	GRCh37
NC_000007.12:g.30618253A>G	NCBI36
NG_007942.1:g.22548A>G , LRG_243:g.22548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.898A>G MANE Select	ENSP00000373918.3:p.Thr300Ala
ENST00000444666.6:c.898A>G	ENSP00000415447.2:p.Thr300Ala
ENST00000470392.2:n.988A>G
ENST00000478124.6:n.961A>G
ENST00000485784.2:n.977A>G
ENST00000674616.1:c.*612A>G	ENSP00000502408.1:n.*612A>G
ENST00000674643.1:c.898A>G	ENSP00000501636.1:p.Thr300Ala
ENST00000674734.1:n.1394A>G
ENST00000674737.1:c.*236A>G	ENSP00000502464.1:n.*236A>G
ENST00000674807.1:c.898A>G	ENSP00000502814.1:p.Thr300Ala
ENST00000674815.1:c.529A>G	ENSP00000502799.1:p.Thr177Ala
ENST00000674851.1:c.529A>G	ENSP00000502451.1:p.Thr177Ala
ENST00000674969.1:n.2771A>G
ENST00000675051.1:c.697A>G	ENSP00000502296.1:p.Thr233Ala
ENST00000675529.1:c.*768A>G	ENSP00000501655.1:n.*768A>G
ENST00000675587.1:n.914A>G
ENST00000675651.1:c.898A>G	ENSP00000502513.1:p.Thr300Ala
ENST00000675693.1:c.730A>G	ENSP00000502174.1:p.Thr244Ala
ENST00000675810.1:c.796A>G	ENSP00000502743.1:p.Thr266Ala
ENST00000675859.1:c.898A>G	ENSP00000502033.1:p.Thr300Ala
ENST00000675863.1:n.906A>G
ENST00000675886.1:n.6938A>G
ENST00000676088.1:c.*840A>G	ENSP00000501884.1:n.*840A>G
ENST00000676140.1:c.898A>G	ENSP00000502571.1:p.Thr300Ala
ENST00000676164.1:c.*349A>G	ENSP00000501986.1:n.*349A>G
ENST00000676210.1:c.*187A>G	ENSP00000502373.1:n.*187A>G
ENST00000676259.1:c.*330A>G	ENSP00000501980.1:n.*330A>G
ENST00000676403.1:c.898A>G	ENSP00000502681.1:p.Thr300Ala
ENST00000389266.7:c.898A>G	ENSP00000373918.3:p.Thr300Ala
ENST00000478124.5:n.936A>G
NM_001316772.1:c.736A>G	NP_001303701.1:p.Thr246Ala
NM_002047.2:c.898A>G , LRG_243t1:c.898A>G	NP_002038.2:p.Thr300Ala
NM_002047.3:c.898A>G	NP_002038.2:p.Thr300Ala
XM_006715686.1:c.529A>G	XP_006715749.1:p.Thr177Ala
XM_006715686.2:c.529A>G	XP_006715749.1:p.Thr177Ala
NM_002047.4:c.898A>G MANE Select	NP_002038.2:p.Thr300Ala