Canonical Allele Identifier: CA334151

Gene: GARS1

Linked Data

• ClinVar Variation Id: 188141
• ClinVar RCV Id: RCV000168016 ; RCV004020000
• dbSNP Id: rs786204099
• gnomAD v2: 7-30649320-C-G
• gnomAD v4: 7-30609704-C-G
• MyVariant Identifiers: chr7:g.30649320C>G (hg19) ; chr7:g.30609704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609704C>G , CM000669.2:g.30609704C>G	GRCh38
NC_000007.13:g.30649320C>G , CM000669.1:g.30649320C>G	GRCh37
NC_000007.12:g.30615845C>G	NCBI36
NG_007942.1:g.20140C>G , LRG_243:g.20140C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.855C>G MANE Select	ENSP00000373918.3:p.Phe285Leu
ENST00000444666.6:c.855C>G	ENSP00000415447.2:p.Phe285Leu
ENST00000470392.2:n.945C>G
ENST00000478124.6:n.918C>G
ENST00000485784.2:n.934C>G
ENST00000674616.1:c.*569C>G	ENSP00000502408.1:n.*569C>G
ENST00000674643.1:c.855C>G	ENSP00000501636.1:p.Phe285Leu
ENST00000674734.1:n.1351C>G
ENST00000674737.1:c.*193C>G	ENSP00000502464.1:n.*193C>G
ENST00000674807.1:c.855C>G	ENSP00000502814.1:p.Phe285Leu
ENST00000674815.1:c.486C>G	ENSP00000502799.1:p.Phe162Leu
ENST00000674851.1:c.486C>G	ENSP00000502451.1:p.Phe162Leu
ENST00000674969.1:n.2728C>G
ENST00000675051.1:c.654C>G	ENSP00000502296.1:p.Phe218Leu
ENST00000675529.1:c.*725C>G	ENSP00000501655.1:n.*725C>G
ENST00000675587.1:n.871C>G
ENST00000675651.1:c.855C>G	ENSP00000502513.1:p.Phe285Leu
ENST00000675693.1:c.687C>G	ENSP00000502174.1:p.Phe229Leu
ENST00000675810.1:c.753C>G	ENSP00000502743.1:p.Phe251Leu
ENST00000675859.1:c.855C>G	ENSP00000502033.1:p.Phe285Leu
ENST00000675863.1:n.863C>G
ENST00000675886.1:n.6895C>G
ENST00000676088.1:c.*797C>G	ENSP00000501884.1:n.*797C>G
ENST00000676140.1:c.855C>G	ENSP00000502571.1:p.Phe285Leu
ENST00000676164.1:c.*306C>G	ENSP00000501986.1:n.*306C>G
ENST00000676210.1:c.*144C>G	ENSP00000502373.1:n.*144C>G
ENST00000676259.1:c.*287C>G	ENSP00000501980.1:n.*287C>G
ENST00000676403.1:c.855C>G	ENSP00000502681.1:p.Phe285Leu
ENST00000389266.7:c.855C>G	ENSP00000373918.3:p.Phe285Leu
ENST00000478124.5:n.893C>G
NM_001316772.1:c.693C>G	NP_001303701.1:p.Phe231Leu
NM_002047.2:c.855C>G , LRG_243t1:c.855C>G	NP_002038.2:p.Phe285Leu
NM_002047.3:c.855C>G	NP_002038.2:p.Phe285Leu
XM_006715686.1:c.486C>G	XP_006715749.1:p.Phe162Leu
XM_006715686.2:c.486C>G	XP_006715749.1:p.Phe162Leu
NM_002047.4:c.855C>G MANE Select	NP_002038.2:p.Phe285Leu