Canonical Allele Identifier: CA367124942

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612136-T-G
• MyVariant Identifiers: chr7:g.30651752T>G (hg19) ; chr7:g.30612136T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612136T>G , CM000669.2:g.30612136T>G	GRCh38
NC_000007.13:g.30651752T>G , CM000669.1:g.30651752T>G	GRCh37
NC_000007.12:g.30618277T>G	NCBI36
NG_007942.1:g.22572T>G , LRG_243:g.22572T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.922T>G MANE Select	ENSP00000373918.3:p.Phe308Val
ENST00000444666.6:c.922T>G	ENSP00000415447.2:p.Phe308Val
ENST00000470392.2:n.1012T>G
ENST00000478124.6:n.985T>G
ENST00000485784.2:n.1001T>G
ENST00000674616.1:c.*636T>G	ENSP00000502408.1:n.*636T>G
ENST00000674643.1:c.922T>G	ENSP00000501636.1:p.Phe308Val
ENST00000674734.1:n.1418T>G
ENST00000674737.1:c.*260T>G	ENSP00000502464.1:n.*260T>G
ENST00000674807.1:c.922T>G	ENSP00000502814.1:p.Phe308Val
ENST00000674815.1:c.553T>G	ENSP00000502799.1:p.Phe185Val
ENST00000674851.1:c.553T>G	ENSP00000502451.1:p.Phe185Val
ENST00000674969.1:n.2795T>G
ENST00000675051.1:c.721T>G	ENSP00000502296.1:p.Phe241Val
ENST00000675529.1:c.*792T>G	ENSP00000501655.1:n.*792T>G
ENST00000675587.1:n.938T>G
ENST00000675651.1:c.922T>G	ENSP00000502513.1:p.Phe308Val
ENST00000675693.1:c.754T>G	ENSP00000502174.1:p.Phe252Val
ENST00000675810.1:c.820T>G	ENSP00000502743.1:p.Phe274Val
ENST00000675859.1:c.922T>G	ENSP00000502033.1:p.Phe308Val
ENST00000675863.1:n.930T>G
ENST00000675886.1:n.6962T>G
ENST00000676088.1:c.*864T>G	ENSP00000501884.1:n.*864T>G
ENST00000676140.1:c.922T>G	ENSP00000502571.1:p.Phe308Val
ENST00000676164.1:c.*373T>G	ENSP00000501986.1:n.*373T>G
ENST00000676210.1:c.*211T>G	ENSP00000502373.1:n.*211T>G
ENST00000676259.1:c.*354T>G	ENSP00000501980.1:n.*354T>G
ENST00000676403.1:c.922T>G	ENSP00000502681.1:p.Phe308Val
ENST00000389266.7:c.922T>G	ENSP00000373918.3:p.Phe308Val
ENST00000478124.5:n.960T>G
NM_001316772.1:c.760T>G	NP_001303701.1:p.Phe254Val
NM_002047.2:c.922T>G , LRG_243t1:c.922T>G	NP_002038.2:p.Phe308Val
NM_002047.3:c.922T>G	NP_002038.2:p.Phe308Val
XM_006715686.1:c.553T>G	XP_006715749.1:p.Phe185Val
XM_006715686.2:c.553T>G	XP_006715749.1:p.Phe185Val
NM_002047.4:c.922T>G MANE Select	NP_002038.2:p.Phe308Val