Canonical Allele Identifier: CA367124717

Gene: GARS1

Linked Data

• ClinVar Variation Id: 476764
• ClinVar RCV Id: RCV000558281
• dbSNP Id: rs1064795123
• MyVariant Identifiers: chr7:g.30649340T>G (hg19) ; chr7:g.30609724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609724T>G , CM000669.2:g.30609724T>G	GRCh38
NC_000007.13:g.30649340T>G , CM000669.1:g.30649340T>G	GRCh37
NC_000007.12:g.30615865T>G	NCBI36
NG_007942.1:g.20160T>G , LRG_243:g.20160T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.875T>G MANE Select	ENSP00000373918.3:p.Met292Arg
ENST00000444666.6:c.875T>G	ENSP00000415447.2:p.Met292Arg
ENST00000470392.2:n.965T>G
ENST00000478124.6:n.938T>G
ENST00000485784.2:n.954T>G
ENST00000674616.1:c.*589T>G	ENSP00000502408.1:n.*589T>G
ENST00000674643.1:c.875T>G	ENSP00000501636.1:p.Met292Arg
ENST00000674734.1:n.1371T>G
ENST00000674737.1:c.*213T>G	ENSP00000502464.1:n.*213T>G
ENST00000674807.1:c.875T>G	ENSP00000502814.1:p.Met292Arg
ENST00000674815.1:c.506T>G	ENSP00000502799.1:p.Met169Arg
ENST00000674851.1:c.506T>G	ENSP00000502451.1:p.Met169Arg
ENST00000674969.1:n.2748T>G
ENST00000675051.1:c.674T>G	ENSP00000502296.1:p.Met225Arg
ENST00000675529.1:c.*745T>G	ENSP00000501655.1:n.*745T>G
ENST00000675587.1:n.891T>G
ENST00000675651.1:c.875T>G	ENSP00000502513.1:p.Met292Arg
ENST00000675693.1:c.707T>G	ENSP00000502174.1:p.Met236Arg
ENST00000675810.1:c.773T>G	ENSP00000502743.1:p.Met258Arg
ENST00000675859.1:c.875T>G	ENSP00000502033.1:p.Met292Arg
ENST00000675863.1:n.883T>G
ENST00000675886.1:n.6915T>G
ENST00000676088.1:c.*817T>G	ENSP00000501884.1:n.*817T>G
ENST00000676140.1:c.875T>G	ENSP00000502571.1:p.Met292Arg
ENST00000676164.1:c.*326T>G	ENSP00000501986.1:n.*326T>G
ENST00000676210.1:c.*164T>G	ENSP00000502373.1:n.*164T>G
ENST00000676259.1:c.*307T>G	ENSP00000501980.1:n.*307T>G
ENST00000676403.1:c.875T>G	ENSP00000502681.1:p.Met292Arg
ENST00000389266.7:c.875T>G	ENSP00000373918.3:p.Met292Arg
ENST00000478124.5:n.913T>G
NM_001316772.1:c.713T>G	NP_001303701.1:p.Met238Arg
NM_002047.2:c.875T>G , LRG_243t1:c.875T>G	NP_002038.2:p.Met292Arg
NM_002047.3:c.875T>G	NP_002038.2:p.Met292Arg
XM_006715686.1:c.506T>G	XP_006715749.1:p.Met169Arg
XM_006715686.2:c.506T>G	XP_006715749.1:p.Met169Arg
NM_002047.4:c.875T>G MANE Select	NP_002038.2:p.Met292Arg