Canonical Allele Identifier: CA454246868

Gene: GARS1

Linked Data

• dbSNP Id: rs1412593111
• gnomAD v3: 7-30612114-T-G
• gnomAD v4: 7-30612114-T-G
• MyVariant Identifiers: chr7:g.30651730T>G (hg19) ; chr7:g.30612114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612114T>G , CM000669.2:g.30612114T>G	GRCh38
NC_000007.13:g.30651730T>G , CM000669.1:g.30651730T>G	GRCh37
NC_000007.12:g.30618255T>G	NCBI36
NG_007942.1:g.22550T>G , LRG_243:g.22550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.900T>G MANE Select	ENSP00000373918.3:p.Thr300=
ENST00000444666.6:c.900T>G	ENSP00000415447.2:p.Thr300=
ENST00000470392.2:n.990T>G
ENST00000478124.6:n.963T>G
ENST00000485784.2:n.979T>G
ENST00000674616.1:c.*614T>G	ENSP00000502408.1:n.*614T>G
ENST00000674643.1:c.900T>G	ENSP00000501636.1:p.Thr300=
ENST00000674734.1:n.1396T>G
ENST00000674737.1:c.*238T>G	ENSP00000502464.1:n.*238T>G
ENST00000674807.1:c.900T>G	ENSP00000502814.1:p.Thr300=
ENST00000674815.1:c.531T>G	ENSP00000502799.1:p.Thr177=
ENST00000674851.1:c.531T>G	ENSP00000502451.1:p.Thr177=
ENST00000674969.1:n.2773T>G
ENST00000675051.1:c.699T>G	ENSP00000502296.1:p.Thr233=
ENST00000675529.1:c.*770T>G	ENSP00000501655.1:n.*770T>G
ENST00000675587.1:n.916T>G
ENST00000675651.1:c.900T>G	ENSP00000502513.1:p.Thr300=
ENST00000675693.1:c.732T>G	ENSP00000502174.1:p.Thr244=
ENST00000675810.1:c.798T>G	ENSP00000502743.1:p.Thr266=
ENST00000675859.1:c.900T>G	ENSP00000502033.1:p.Thr300=
ENST00000675863.1:n.908T>G
ENST00000675886.1:n.6940T>G
ENST00000676088.1:c.*842T>G	ENSP00000501884.1:n.*842T>G
ENST00000676140.1:c.900T>G	ENSP00000502571.1:p.Thr300=
ENST00000676164.1:c.*351T>G	ENSP00000501986.1:n.*351T>G
ENST00000676210.1:c.*189T>G	ENSP00000502373.1:n.*189T>G
ENST00000676259.1:c.*332T>G	ENSP00000501980.1:n.*332T>G
ENST00000676403.1:c.900T>G	ENSP00000502681.1:p.Thr300=
ENST00000389266.7:c.900T>G	ENSP00000373918.3:p.Thr300=
ENST00000478124.5:n.938T>G
NM_001316772.1:c.738T>G	NP_001303701.1:p.Thr246=
NM_002047.2:c.900T>G , LRG_243t1:c.900T>G	NP_002038.2:p.Thr300=
NM_002047.3:c.900T>G	NP_002038.2:p.Thr300=
XM_006715686.1:c.531T>G	XP_006715749.1:p.Thr177=
XM_006715686.2:c.531T>G	XP_006715749.1:p.Thr177=
NM_002047.4:c.900T>G MANE Select	NP_002038.2:p.Thr300=