Canonical Allele Identifier: CA156048967

Gene: GARS1

Linked Data

• ClinVar Variation Id: 946898
• ClinVar RCV Id: RCV001217855
• dbSNP Id: rs200437855
• gnomAD v3: 7-30609586-T-G
• gnomAD v4: 7-30609586-T-G
• MyVariant Identifiers: chr7:g.30649202T>G (hg19) ; chr7:g.30609586T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609586T>G , CM000669.2:g.30609586T>G	GRCh38
NC_000007.13:g.30649202T>G , CM000669.1:g.30649202T>G	GRCh37
NC_000007.12:g.30615727T>G	NCBI36
NG_007942.1:g.20022T>G , LRG_243:g.20022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.737T>G MANE Select	ENSP00000373918.3:p.Leu246Arg
ENST00000444666.6:c.737T>G	ENSP00000415447.2:p.Leu246Arg
ENST00000470392.2:n.827T>G
ENST00000478124.6:n.800T>G
ENST00000485784.2:n.816T>G
ENST00000674616.1:c.*451T>G	ENSP00000502408.1:n.*451T>G
ENST00000674643.1:c.737T>G	ENSP00000501636.1:p.Leu246Arg
ENST00000674734.1:n.1233T>G
ENST00000674737.1:c.*75T>G	ENSP00000502464.1:n.*75T>G
ENST00000674807.1:c.737T>G	ENSP00000502814.1:p.Leu246Arg
ENST00000674815.1:c.368T>G	ENSP00000502799.1:p.Leu123Arg
ENST00000674851.1:c.368T>G	ENSP00000502451.1:p.Leu123Arg
ENST00000674969.1:n.2610T>G
ENST00000675051.1:c.536T>G	ENSP00000502296.1:p.Leu179Arg
ENST00000675529.1:c.*607T>G	ENSP00000501655.1:n.*607T>G
ENST00000675587.1:n.753T>G
ENST00000675651.1:c.737T>G	ENSP00000502513.1:p.Leu246Arg
ENST00000675693.1:c.569T>G	ENSP00000502174.1:p.Leu190Arg
ENST00000675810.1:c.635T>G	ENSP00000502743.1:p.Leu212Arg
ENST00000675859.1:c.737T>G	ENSP00000502033.1:p.Leu246Arg
ENST00000675863.1:n.745T>G
ENST00000675886.1:n.6777T>G
ENST00000676088.1:c.*679T>G	ENSP00000501884.1:n.*679T>G
ENST00000676140.1:c.737T>G	ENSP00000502571.1:p.Leu246Arg
ENST00000676164.1:c.*188T>G	ENSP00000501986.1:n.*188T>G
ENST00000676210.1:c.*26T>G	ENSP00000502373.1:n.*26T>G
ENST00000676259.1:c.*169T>G	ENSP00000501980.1:n.*169T>G
ENST00000676403.1:c.737T>G	ENSP00000502681.1:p.Leu246Arg
ENST00000389266.7:c.737T>G	ENSP00000373918.3:p.Leu246Arg
ENST00000478124.5:n.775T>G
NM_001316772.1:c.575T>G	NP_001303701.1:p.Leu192Arg
NM_002047.2:c.737T>G , LRG_243t1:c.737T>G	NP_002038.2:p.Leu246Arg
NM_002047.3:c.737T>G	NP_002038.2:p.Leu246Arg
XM_006715686.1:c.368T>G	XP_006715749.1:p.Leu123Arg
XM_006715686.2:c.368T>G	XP_006715749.1:p.Leu123Arg
NM_002047.4:c.737T>G MANE Select	NP_002038.2:p.Leu246Arg