Canonical Allele Identifier: CA254708

Gene: GARS1

Linked Data

• ClinVar Variation Id: 9206
• ClinVar RCV Id: RCV000009784 ; RCV000790253 ; RCV001260976
• dbSNP Id: rs137852645
• MyVariant Identifiers: chr7:g.30639612A>G (hg19) ; chr7:g.30599996A>G (hg38)
• PubMed: PMID:9879677 ; PMID:12690580 ; PMID:25168514

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30599996A>G , CM000669.2:g.30599996A>G	GRCh38
NC_000007.13:g.30639612A>G , CM000669.1:g.30639612A>G	GRCh37
NC_000007.12:g.30606137A>G	NCBI36
NG_007942.1:g.10432A>G , LRG_243:g.10432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.374A>G MANE Select	ENSP00000373918.3:p.Glu125Gly
ENST00000444666.6:c.374A>G	ENSP00000415447.2:p.Glu125Gly
ENST00000454308.6:c.374A>G	ENSP00000392677.2:p.Glu125Gly
ENST00000470392.2:n.464A>G
ENST00000478124.6:n.437A>G
ENST00000485784.2:n.453A>G
ENST00000674616.1:c.*88A>G	ENSP00000502408.1:n.*88A>G
ENST00000674643.1:c.374A>G	ENSP00000501636.1:p.Glu125Gly
ENST00000674737.1:c.374A>G	ENSP00000502464.1:p.Glu125Gly
ENST00000674807.1:c.374A>G	ENSP00000502814.1:p.Glu125Gly
ENST00000674815.1:c.5A>G	ENSP00000502799.1:p.Glu2Gly
ENST00000674851.1:c.5A>G	ENSP00000502451.1:p.Glu2Gly
ENST00000674969.1:n.414A>G
ENST00000675025.1:n.290A>G
ENST00000675051.1:c.173A>G	ENSP00000502296.1:p.Glu58Gly
ENST00000675529.1:c.*244A>G	ENSP00000501655.1:n.*244A>G
ENST00000675587.1:n.390A>G
ENST00000675651.1:c.374A>G	ENSP00000502513.1:p.Glu125Gly
ENST00000675693.1:c.206A>G	ENSP00000502174.1:p.Glu69Gly
ENST00000675810.1:c.272A>G	ENSP00000502743.1:p.Glu91Gly
ENST00000675859.1:c.374A>G	ENSP00000502033.1:p.Glu125Gly
ENST00000675863.1:n.382A>G
ENST00000675886.1:n.402A>G
ENST00000676088.1:c.*244A>G	ENSP00000501884.1:n.*244A>G
ENST00000676140.1:c.374A>G	ENSP00000502571.1:p.Glu125Gly
ENST00000676164.1:c.374A>G	ENSP00000501986.1:p.Glu125Gly
ENST00000676210.1:c.374A>G	ENSP00000502373.1:p.Glu125Gly
ENST00000676259.1:c.374A>G	ENSP00000501980.1:p.Glu125Gly
ENST00000676403.1:c.374A>G	ENSP00000502681.1:p.Glu125Gly
ENST00000389266.7:c.374A>G	ENSP00000373918.3:p.Glu125Gly
ENST00000454308.5:c.*244A>G	ENSP00000392677.1:n.*244A>G
ENST00000478124.5:n.412A>G
NM_001316772.1:c.212A>G	NP_001303701.1:p.Glu71Gly
NM_002047.2:c.374A>G , LRG_243t1:c.374A>G	NP_002038.2:p.Glu125Gly
NM_002047.3:c.374A>G	NP_002038.2:p.Glu125Gly
XM_006715686.1:c.5A>G	XP_006715749.1:p.Glu2Gly
XM_006715686.2:c.5A>G	XP_006715749.1:p.Glu2Gly
NM_002047.4:c.374A>G MANE Select	NP_002038.2:p.Glu125Gly