Canonical Allele Identifier: CA4205629

Gene: GARS1

Linked Data

• ClinVar Variation Id: 422016
• ClinVar RCV Id: RCV000486004 ; RCV000694201 ; RCV001164407 ; RCV001164408 ; RCV001164409 ; RCV001509302
• dbSNP Id: rs200294578
• ExAC: 7:30638442 A / G
• gnomAD v2: 7-30638442-A-G
• gnomAD v3: 7-30598826-A-G
• gnomAD v4: 7-30598826-A-G
• MyVariant Identifiers: chr7:g.30638442A>G (hg19) ; chr7:g.30598826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30598826A>G , CM000669.2:g.30598826A>G	GRCh38
NC_000007.13:g.30638442A>G , CM000669.1:g.30638442A>G	GRCh37
NC_000007.12:g.30604967A>G	NCBI36
NG_007942.1:g.9262A>G , LRG_243:g.9262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.253A>G MANE Select	ENSP00000373918.3:p.Lys85Glu
ENST00000444666.6:c.253A>G	ENSP00000415447.2:p.Lys85Glu
ENST00000454308.6:c.253A>G	ENSP00000392677.2:p.Lys85Glu
ENST00000470392.2:n.343A>G
ENST00000478124.6:n.316A>G
ENST00000485784.2:n.332A>G
ENST00000674616.1:c.253A>G	ENSP00000502408.1:p.Lys85Glu
ENST00000674643.1:c.253A>G	ENSP00000501636.1:p.Lys85Glu
ENST00000674737.1:c.253A>G	ENSP00000502464.1:p.Lys85Glu
ENST00000674807.1:c.253A>G	ENSP00000502814.1:p.Lys85Glu
ENST00000674815.1:c.-117A>G	ENSP00000502799.1:n.-117A>G
ENST00000674851.1:c.-117A>G	ENSP00000502451.1:n.-117A>G
ENST00000674969.1:n.293A>G
ENST00000675025.1:n.169A>G
ENST00000675051.1:c.52A>G	ENSP00000502296.1:p.Lys18Glu
ENST00000675529.1:c.*123A>G	ENSP00000501655.1:n.*123A>G
ENST00000675587.1:n.269A>G
ENST00000675651.1:c.253A>G	ENSP00000502513.1:p.Lys85Glu
ENST00000675693.1:c.85A>G	ENSP00000502174.1:p.Lys29Glu
ENST00000675810.1:c.223-1121A>G	ENSP00000502743.1:n.223-1121A>G
ENST00000675859.1:c.253A>G	ENSP00000502033.1:p.Lys85Glu
ENST00000675863.1:n.261A>G
ENST00000675886.1:n.281A>G
ENST00000676088.1:c.*123A>G	ENSP00000501884.1:n.*123A>G
ENST00000676140.1:c.253A>G	ENSP00000502571.1:p.Lys85Glu
ENST00000676164.1:c.253A>G	ENSP00000501986.1:p.Lys85Glu
ENST00000676210.1:c.253A>G	ENSP00000502373.1:p.Lys85Glu
ENST00000676259.1:c.253A>G	ENSP00000501980.1:p.Lys85Glu
ENST00000676403.1:c.253A>G	ENSP00000502681.1:p.Lys85Glu
ENST00000389266.7:c.253A>G	ENSP00000373918.3:p.Lys85Glu
ENST00000454308.5:c.*123A>G	ENSP00000392677.1:n.*123A>G
ENST00000478124.5:n.291A>G
NM_001316772.1:c.91A>G	NP_001303701.1:p.Lys31Glu
NM_002047.2:c.253A>G , LRG_243t1:c.253A>G	NP_002038.2:p.Lys85Glu
NM_002047.3:c.253A>G	NP_002038.2:p.Lys85Glu
XM_006715686.1:c.-117A>G	XP_006715749.1:n.-117A>G
XM_006715686.2:c.-117A>G	XP_006715749.1:n.-117A>G
NM_002047.4:c.253A>G MANE Select	NP_002038.2:p.Lys85Glu