Canonical Allele Identifier: CA367125563

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1326212
• ClinVar RCV Id: RCV001786273 ; RCV003314018
• dbSNP Id: rs2128134030
• MyVariant Identifiers: chr7:g.30651845G>A (hg19) ; chr7:g.30612229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612229G>A , CM000669.2:g.30612229G>A	GRCh38
NC_000007.13:g.30651845G>A , CM000669.1:g.30651845G>A	GRCh37
NC_000007.12:g.30618370G>A	NCBI36
NG_007942.1:g.22665G>A , LRG_243:g.22665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1015G>A MANE Select	ENSP00000373918.3:p.Gly339Arg
ENST00000444666.6:c.1015G>A	ENSP00000415447.2:p.Gly339Arg
ENST00000470392.2:n.1105G>A
ENST00000478124.6:n.1078G>A
ENST00000485784.2:n.1094G>A
ENST00000674616.1:c.*729G>A	ENSP00000502408.1:n.*729G>A
ENST00000674643.1:c.1015G>A	ENSP00000501636.1:p.Gly339Arg
ENST00000674734.1:n.1511G>A
ENST00000674737.1:c.*353G>A	ENSP00000502464.1:n.*353G>A
ENST00000674807.1:c.1015G>A	ENSP00000502814.1:p.Gly339Arg
ENST00000674815.1:c.646G>A	ENSP00000502799.1:p.Gly216Arg
ENST00000674851.1:c.646G>A	ENSP00000502451.1:p.Gly216Arg
ENST00000674969.1:n.2888G>A
ENST00000675051.1:c.814G>A	ENSP00000502296.1:p.Gly272Arg
ENST00000675529.1:c.*885G>A	ENSP00000501655.1:n.*885G>A
ENST00000675587.1:n.1031G>A
ENST00000675651.1:c.1015G>A	ENSP00000502513.1:p.Gly339Arg
ENST00000675693.1:c.847G>A	ENSP00000502174.1:p.Gly283Arg
ENST00000675810.1:c.913G>A	ENSP00000502743.1:p.Gly305Arg
ENST00000675859.1:c.1015G>A	ENSP00000502033.1:p.Gly339Arg
ENST00000675863.1:n.1023G>A
ENST00000675886.1:n.7055G>A
ENST00000676088.1:c.*957G>A	ENSP00000501884.1:n.*957G>A
ENST00000676140.1:c.1015G>A	ENSP00000502571.1:p.Gly339Arg
ENST00000676164.1:c.*466G>A	ENSP00000501986.1:n.*466G>A
ENST00000676210.1:c.*304G>A	ENSP00000502373.1:n.*304G>A
ENST00000676259.1:c.*447G>A	ENSP00000501980.1:n.*447G>A
ENST00000676403.1:c.1015G>A	ENSP00000502681.1:p.Gly339Arg
ENST00000389266.7:c.1015G>A	ENSP00000373918.3:p.Gly339Arg
ENST00000478124.5:n.1053G>A
NM_001316772.1:c.853G>A	NP_001303701.1:p.Gly285Arg
NM_002047.2:c.1015G>A , LRG_243t1:c.1015G>A	NP_002038.2:p.Gly339Arg
NM_002047.3:c.1015G>A	NP_002038.2:p.Gly339Arg
XM_006715686.1:c.646G>A	XP_006715749.1:p.Gly216Arg
XM_006715686.2:c.646G>A	XP_006715749.1:p.Gly216Arg
NM_002047.4:c.1015G>A MANE Select	NP_002038.2:p.Gly339Arg