Canonical Allele Identifier: CA367125191

Gene: GARS1

Linked Data

• dbSNP Id: rs1442649879
• gnomAD v2: 7-30651818-T-G
• gnomAD v4: 7-30612202-T-G
• MyVariant Identifiers: chr7:g.30651818T>G (hg19) ; chr7:g.30612202T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612202T>G , CM000669.2:g.30612202T>G	GRCh38
NC_000007.13:g.30651818T>G , CM000669.1:g.30651818T>G	GRCh37
NC_000007.12:g.30618343T>G	NCBI36
NG_007942.1:g.22638T>G , LRG_243:g.22638T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.988T>G MANE Select	ENSP00000373918.3:p.Phe330Val
ENST00000444666.6:c.988T>G	ENSP00000415447.2:p.Phe330Val
ENST00000470392.2:n.1078T>G
ENST00000478124.6:n.1051T>G
ENST00000485784.2:n.1067T>G
ENST00000674616.1:c.*702T>G	ENSP00000502408.1:n.*702T>G
ENST00000674643.1:c.988T>G	ENSP00000501636.1:p.Phe330Val
ENST00000674734.1:n.1484T>G
ENST00000674737.1:c.*326T>G	ENSP00000502464.1:n.*326T>G
ENST00000674807.1:c.988T>G	ENSP00000502814.1:p.Phe330Val
ENST00000674815.1:c.619T>G	ENSP00000502799.1:p.Phe207Val
ENST00000674851.1:c.619T>G	ENSP00000502451.1:p.Phe207Val
ENST00000674969.1:n.2861T>G
ENST00000675051.1:c.787T>G	ENSP00000502296.1:p.Phe263Val
ENST00000675529.1:c.*858T>G	ENSP00000501655.1:n.*858T>G
ENST00000675587.1:n.1004T>G
ENST00000675651.1:c.988T>G	ENSP00000502513.1:p.Phe330Val
ENST00000675693.1:c.820T>G	ENSP00000502174.1:p.Phe274Val
ENST00000675810.1:c.886T>G	ENSP00000502743.1:p.Phe296Val
ENST00000675859.1:c.988T>G	ENSP00000502033.1:p.Phe330Val
ENST00000675863.1:n.996T>G
ENST00000675886.1:n.7028T>G
ENST00000676088.1:c.*930T>G	ENSP00000501884.1:n.*930T>G
ENST00000676140.1:c.988T>G	ENSP00000502571.1:p.Phe330Val
ENST00000676164.1:c.*439T>G	ENSP00000501986.1:n.*439T>G
ENST00000676210.1:c.*277T>G	ENSP00000502373.1:n.*277T>G
ENST00000676259.1:c.*420T>G	ENSP00000501980.1:n.*420T>G
ENST00000676403.1:c.988T>G	ENSP00000502681.1:p.Phe330Val
ENST00000389266.7:c.988T>G	ENSP00000373918.3:p.Phe330Val
ENST00000478124.5:n.1026T>G
NM_001316772.1:c.826T>G	NP_001303701.1:p.Phe276Val
NM_002047.2:c.988T>G , LRG_243t1:c.988T>G	NP_002038.2:p.Phe330Val
NM_002047.3:c.988T>G	NP_002038.2:p.Phe330Val
XM_006715686.1:c.619T>G	XP_006715749.1:p.Phe207Val
XM_006715686.2:c.619T>G	XP_006715749.1:p.Phe207Val
NM_002047.4:c.988T>G MANE Select	NP_002038.2:p.Phe330Val