Canonical Allele Identifier: CA367124220

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649239T>G (hg19) ; chr7:g.30609623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609623T>G , CM000669.2:g.30609623T>G	GRCh38
NC_000007.13:g.30649239T>G , CM000669.1:g.30649239T>G	GRCh37
NC_000007.12:g.30615764T>G	NCBI36
NG_007942.1:g.20059T>G , LRG_243:g.20059T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.774T>G MANE Select	ENSP00000373918.3:p.Phe258Leu
ENST00000444666.6:c.774T>G	ENSP00000415447.2:p.Phe258Leu
ENST00000470392.2:n.864T>G
ENST00000478124.6:n.837T>G
ENST00000485784.2:n.853T>G
ENST00000674616.1:c.*488T>G	ENSP00000502408.1:n.*488T>G
ENST00000674643.1:c.774T>G	ENSP00000501636.1:p.Phe258Leu
ENST00000674734.1:n.1270T>G
ENST00000674737.1:c.*112T>G	ENSP00000502464.1:n.*112T>G
ENST00000674807.1:c.774T>G	ENSP00000502814.1:p.Phe258Leu
ENST00000674815.1:c.405T>G	ENSP00000502799.1:p.Phe135Leu
ENST00000674851.1:c.405T>G	ENSP00000502451.1:p.Phe135Leu
ENST00000674969.1:n.2647T>G
ENST00000675051.1:c.573T>G	ENSP00000502296.1:p.Phe191Leu
ENST00000675529.1:c.*644T>G	ENSP00000501655.1:n.*644T>G
ENST00000675587.1:n.790T>G
ENST00000675651.1:c.774T>G	ENSP00000502513.1:p.Phe258Leu
ENST00000675693.1:c.606T>G	ENSP00000502174.1:p.Phe202Leu
ENST00000675810.1:c.672T>G	ENSP00000502743.1:p.Phe224Leu
ENST00000675859.1:c.774T>G	ENSP00000502033.1:p.Phe258Leu
ENST00000675863.1:n.782T>G
ENST00000675886.1:n.6814T>G
ENST00000676088.1:c.*716T>G	ENSP00000501884.1:n.*716T>G
ENST00000676140.1:c.774T>G	ENSP00000502571.1:p.Phe258Leu
ENST00000676164.1:c.*225T>G	ENSP00000501986.1:n.*225T>G
ENST00000676210.1:c.*63T>G	ENSP00000502373.1:n.*63T>G
ENST00000676259.1:c.*206T>G	ENSP00000501980.1:n.*206T>G
ENST00000676403.1:c.774T>G	ENSP00000502681.1:p.Phe258Leu
ENST00000389266.7:c.774T>G	ENSP00000373918.3:p.Phe258Leu
ENST00000478124.5:n.812T>G
NM_001316772.1:c.612T>G	NP_001303701.1:p.Phe204Leu
NM_002047.2:c.774T>G , LRG_243t1:c.774T>G	NP_002038.2:p.Phe258Leu
NM_002047.3:c.774T>G	NP_002038.2:p.Phe258Leu
XM_006715686.1:c.405T>G	XP_006715749.1:p.Phe135Leu
XM_006715686.2:c.405T>G	XP_006715749.1:p.Phe135Leu
NM_002047.4:c.774T>G MANE Select	NP_002038.2:p.Phe258Leu