Canonical Allele Identifier: CA367125064

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612167-A-G
• MyVariant Identifiers: chr7:g.30651783A>G (hg19) ; chr7:g.30612167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612167A>G , CM000669.2:g.30612167A>G	GRCh38
NC_000007.13:g.30651783A>G , CM000669.1:g.30651783A>G	GRCh37
NC_000007.12:g.30618308A>G	NCBI36
NG_007942.1:g.22603A>G , LRG_243:g.22603A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.953A>G MANE Select	ENSP00000373918.3:p.Lys318Arg
ENST00000444666.6:c.953A>G	ENSP00000415447.2:p.Lys318Arg
ENST00000470392.2:n.1043A>G
ENST00000478124.6:n.1016A>G
ENST00000485784.2:n.1032A>G
ENST00000674616.1:c.*667A>G	ENSP00000502408.1:n.*667A>G
ENST00000674643.1:c.953A>G	ENSP00000501636.1:p.Lys318Arg
ENST00000674734.1:n.1449A>G
ENST00000674737.1:c.*291A>G	ENSP00000502464.1:n.*291A>G
ENST00000674807.1:c.953A>G	ENSP00000502814.1:p.Lys318Arg
ENST00000674815.1:c.584A>G	ENSP00000502799.1:p.Lys195Arg
ENST00000674851.1:c.584A>G	ENSP00000502451.1:p.Lys195Arg
ENST00000674969.1:n.2826A>G
ENST00000675051.1:c.752A>G	ENSP00000502296.1:p.Lys251Arg
ENST00000675529.1:c.*823A>G	ENSP00000501655.1:n.*823A>G
ENST00000675587.1:n.969A>G
ENST00000675651.1:c.953A>G	ENSP00000502513.1:p.Lys318Arg
ENST00000675693.1:c.785A>G	ENSP00000502174.1:p.Lys262Arg
ENST00000675810.1:c.851A>G	ENSP00000502743.1:p.Lys284Arg
ENST00000675859.1:c.953A>G	ENSP00000502033.1:p.Lys318Arg
ENST00000675863.1:n.961A>G
ENST00000675886.1:n.6993A>G
ENST00000676088.1:c.*895A>G	ENSP00000501884.1:n.*895A>G
ENST00000676140.1:c.953A>G	ENSP00000502571.1:p.Lys318Arg
ENST00000676164.1:c.*404A>G	ENSP00000501986.1:n.*404A>G
ENST00000676210.1:c.*242A>G	ENSP00000502373.1:n.*242A>G
ENST00000676259.1:c.*385A>G	ENSP00000501980.1:n.*385A>G
ENST00000676403.1:c.953A>G	ENSP00000502681.1:p.Lys318Arg
ENST00000389266.7:c.953A>G	ENSP00000373918.3:p.Lys318Arg
ENST00000478124.5:n.991A>G
NM_001316772.1:c.791A>G	NP_001303701.1:p.Lys264Arg
NM_002047.2:c.953A>G , LRG_243t1:c.953A>G	NP_002038.2:p.Lys318Arg
NM_002047.3:c.953A>G	NP_002038.2:p.Lys318Arg
XM_006715686.1:c.584A>G	XP_006715749.1:p.Lys195Arg
XM_006715686.2:c.584A>G	XP_006715749.1:p.Lys195Arg
NM_002047.4:c.953A>G MANE Select	NP_002038.2:p.Lys318Arg