Canonical Allele Identifier: CA367125503

Gene: GARS1

Linked Data

• ClinVar Variation Id: 637107
• ClinVar RCV Id: RCV000789143 ; RCV003447179
• dbSNP Id: rs863224873
• MyVariant Identifiers: chr7:g.30651828A>G (hg19) ; chr7:g.30612212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612212A>G , CM000669.2:g.30612212A>G	GRCh38
NC_000007.13:g.30651828A>G , CM000669.1:g.30651828A>G	GRCh37
NC_000007.12:g.30618353A>G	NCBI36
NG_007942.1:g.22648A>G , LRG_243:g.22648A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.998A>G MANE Select	ENSP00000373918.3:p.Glu333Gly
ENST00000444666.6:c.998A>G	ENSP00000415447.2:p.Glu333Gly
ENST00000470392.2:n.1088A>G
ENST00000478124.6:n.1061A>G
ENST00000485784.2:n.1077A>G
ENST00000674616.1:c.*712A>G	ENSP00000502408.1:n.*712A>G
ENST00000674643.1:c.998A>G	ENSP00000501636.1:p.Glu333Gly
ENST00000674734.1:n.1494A>G
ENST00000674737.1:c.*336A>G	ENSP00000502464.1:n.*336A>G
ENST00000674807.1:c.998A>G	ENSP00000502814.1:p.Glu333Gly
ENST00000674815.1:c.629A>G	ENSP00000502799.1:p.Glu210Gly
ENST00000674851.1:c.629A>G	ENSP00000502451.1:p.Glu210Gly
ENST00000674969.1:n.2871A>G
ENST00000675051.1:c.797A>G	ENSP00000502296.1:p.Glu266Gly
ENST00000675529.1:c.*868A>G	ENSP00000501655.1:n.*868A>G
ENST00000675587.1:n.1014A>G
ENST00000675651.1:c.998A>G	ENSP00000502513.1:p.Glu333Gly
ENST00000675693.1:c.830A>G	ENSP00000502174.1:p.Glu277Gly
ENST00000675810.1:c.896A>G	ENSP00000502743.1:p.Glu299Gly
ENST00000675859.1:c.998A>G	ENSP00000502033.1:p.Glu333Gly
ENST00000675863.1:n.1006A>G
ENST00000675886.1:n.7038A>G
ENST00000676088.1:c.*940A>G	ENSP00000501884.1:n.*940A>G
ENST00000676140.1:c.998A>G	ENSP00000502571.1:p.Glu333Gly
ENST00000676164.1:c.*449A>G	ENSP00000501986.1:n.*449A>G
ENST00000676210.1:c.*287A>G	ENSP00000502373.1:n.*287A>G
ENST00000676259.1:c.*430A>G	ENSP00000501980.1:n.*430A>G
ENST00000676403.1:c.998A>G	ENSP00000502681.1:p.Glu333Gly
ENST00000389266.7:c.998A>G	ENSP00000373918.3:p.Glu333Gly
ENST00000478124.5:n.1036A>G
NM_001316772.1:c.836A>G	NP_001303701.1:p.Glu279Gly
NM_002047.2:c.998A>G , LRG_243t1:c.998A>G	NP_002038.2:p.Glu333Gly
NM_002047.3:c.998A>G	NP_002038.2:p.Glu333Gly
XM_006715686.1:c.629A>G	XP_006715749.1:p.Glu210Gly
XM_006715686.2:c.629A>G	XP_006715749.1:p.Glu210Gly
NM_002047.4:c.998A>G MANE Select	NP_002038.2:p.Glu333Gly