Canonical Allele Identifier: CA367125926

Gene: GARS1

Linked Data

• ClinVar Variation Id: 543246
• ClinVar RCV Id: RCV000653955
• dbSNP Id: rs1554338641
• MyVariant Identifiers: chr7:g.30655514A>G (hg19) ; chr7:g.30615898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30615898A>G , CM000669.2:g.30615898A>G	GRCh38
NC_000007.13:g.30655514A>G , CM000669.1:g.30655514A>G	GRCh37
NC_000007.12:g.30622039A>G	NCBI36
NG_007942.1:g.26334A>G , LRG_243:g.26334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1034A>G MANE Select	ENSP00000373918.3:p.Glu345Gly
ENST00000444666.6:c.1034A>G	ENSP00000415447.2:p.Glu345Gly
ENST00000470392.2:n.1124A>G
ENST00000478124.6:n.1097A>G
ENST00000485784.2:n.1113A>G
ENST00000674616.1:c.*748A>G	ENSP00000502408.1:n.*748A>G
ENST00000674643.1:c.*134A>G	ENSP00000501636.1:n.*134A>G
ENST00000674734.1:n.1530A>G
ENST00000674737.1:c.*372A>G	ENSP00000502464.1:n.*372A>G
ENST00000674807.1:c.1034A>G	ENSP00000502814.1:p.Glu345Gly
ENST00000674815.1:c.665A>G	ENSP00000502799.1:p.Glu222Gly
ENST00000674851.1:c.665A>G	ENSP00000502451.1:p.Glu222Gly
ENST00000674969.1:n.2907A>G
ENST00000675051.1:c.833A>G	ENSP00000502296.1:p.Glu278Gly
ENST00000675529.1:c.*904A>G	ENSP00000501655.1:n.*904A>G
ENST00000675587.1:n.1050A>G
ENST00000675651.1:c.1034A>G	ENSP00000502513.1:p.Glu345Gly
ENST00000675693.1:c.866A>G	ENSP00000502174.1:p.Glu289Gly
ENST00000675810.1:c.932A>G	ENSP00000502743.1:p.Glu311Gly
ENST00000675859.1:c.1034A>G	ENSP00000502033.1:p.Glu345Gly
ENST00000675863.1:n.1042A>G
ENST00000675886.1:n.7074A>G
ENST00000676088.1:c.*976A>G	ENSP00000501884.1:n.*976A>G
ENST00000676140.1:c.1032A>G	ENSP00000502571.1:p.Arg344=
ENST00000676164.1:c.*485A>G	ENSP00000501986.1:n.*485A>G
ENST00000676210.1:c.*323A>G	ENSP00000502373.1:n.*323A>G
ENST00000676259.1:c.*466A>G	ENSP00000501980.1:n.*466A>G
ENST00000676403.1:c.1034A>G	ENSP00000502681.1:p.Glu345Gly
ENST00000389266.7:c.1034A>G	ENSP00000373918.3:p.Glu345Gly
ENST00000478124.5:n.1072A>G
ENST00000484093.1:n.33A>G
NM_001316772.1:c.872A>G	NP_001303701.1:p.Glu291Gly
NM_002047.2:c.1034A>G , LRG_243t1:c.1034A>G	NP_002038.2:p.Glu345Gly
NM_002047.3:c.1034A>G	NP_002038.2:p.Glu345Gly
XM_006715686.1:c.665A>G	XP_006715749.1:p.Glu222Gly
XM_006715686.2:c.665A>G	XP_006715749.1:p.Glu222Gly
NM_002047.4:c.1034A>G MANE Select	NP_002038.2:p.Glu345Gly