Canonical Allele Identifier: CA367125063

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1680918
• ClinVar RCV Id: RCV002238440
• dbSNP Id: rs2128134017
• MyVariant Identifiers: chr7:g.30651783A>T (hg19) ; chr7:g.30612167A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.953A>T MANE Select	ENSP00000373918.3:p.Lys318Met
ENST00000444666.6:c.953A>T	ENSP00000415447.2:p.Lys318Met
ENST00000470392.2:n.1043A>T
ENST00000478124.6:n.1016A>T
ENST00000485784.2:n.1032A>T
ENST00000674616.1:c.*667A>T	ENSP00000502408.1:n.*667A>T
ENST00000674643.1:c.953A>T	ENSP00000501636.1:p.Lys318Met
ENST00000674734.1:n.1449A>T
ENST00000674737.1:c.*291A>T	ENSP00000502464.1:n.*291A>T
ENST00000674807.1:c.953A>T	ENSP00000502814.1:p.Lys318Met
ENST00000674815.1:c.584A>T	ENSP00000502799.1:p.Lys195Met
ENST00000674851.1:c.584A>T	ENSP00000502451.1:p.Lys195Met
ENST00000674969.1:n.2826A>T
ENST00000675051.1:c.752A>T	ENSP00000502296.1:p.Lys251Met
ENST00000675529.1:c.*823A>T	ENSP00000501655.1:n.*823A>T
ENST00000675587.1:n.969A>T
ENST00000675651.1:c.953A>T	ENSP00000502513.1:p.Lys318Met
ENST00000675693.1:c.785A>T	ENSP00000502174.1:p.Lys262Met
ENST00000675810.1:c.851A>T	ENSP00000502743.1:p.Lys284Met
ENST00000675859.1:c.953A>T	ENSP00000502033.1:p.Lys318Met
ENST00000675863.1:n.961A>T
ENST00000675886.1:n.6993A>T
ENST00000676088.1:c.*895A>T	ENSP00000501884.1:n.*895A>T
ENST00000676140.1:c.953A>T	ENSP00000502571.1:p.Lys318Met
ENST00000676164.1:c.*404A>T	ENSP00000501986.1:n.*404A>T
ENST00000676210.1:c.*242A>T	ENSP00000502373.1:n.*242A>T
ENST00000676259.1:c.*385A>T	ENSP00000501980.1:n.*385A>T
ENST00000676403.1:c.953A>T	ENSP00000502681.1:p.Lys318Met
ENST00000389266.7:c.953A>T	ENSP00000373918.3:p.Lys318Met
ENST00000478124.5:n.991A>T
NM_001316772.1:c.791A>T	NP_001303701.1:p.Lys264Met
NM_002047.2:c.953A>T , LRG_243t1:c.953A>T	NP_002038.2:p.Lys318Met
NM_002047.3:c.953A>T	NP_002038.2:p.Lys318Met
XM_006715686.1:c.584A>T	XP_006715749.1:p.Lys195Met
XM_006715686.2:c.584A>T	XP_006715749.1:p.Lys195Met
NM_002047.4:c.953A>T MANE Select	NP_002038.2:p.Lys318Met