Canonical Allele Identifier: CA454253389

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661029A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621413A>G , CM000669.2:g.30621413A>G	GRCh38
NC_000007.13:g.30661029A>G , CM000669.1:g.30661029A>G	GRCh37
NC_000007.12:g.30627554A>G	NCBI36
NG_007942.1:g.31849A>G , LRG_243:g.31849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1380A>G MANE Select	ENSP00000373918.3:p.Gly460=
ENST00000444666.6:c.1380A>G	ENSP00000415447.2:p.Gly460=
ENST00000470392.2:n.1470A>G
ENST00000478124.6:n.1443A>G
ENST00000485784.2:n.1459A>G
ENST00000674616.1:c.*1094A>G	ENSP00000502408.1:n.*1094A>G
ENST00000674643.1:c.*480A>G	ENSP00000501636.1:n.*480A>G
ENST00000674734.1:n.1876A>G
ENST00000674737.1:c.*718A>G	ENSP00000502464.1:n.*718A>G
ENST00000674807.1:c.1380A>G	ENSP00000502814.1:p.Gly460=
ENST00000674815.1:c.1011A>G	ENSP00000502799.1:p.Gly337=
ENST00000674851.1:c.1011A>G	ENSP00000502451.1:p.Gly337=
ENST00000674969.1:n.3253A>G
ENST00000675051.1:c.1179A>G	ENSP00000502296.1:p.Gly393=
ENST00000675529.1:c.*1250A>G	ENSP00000501655.1:n.*1250A>G
ENST00000675587.1:n.1396A>G
ENST00000675651.1:c.1380A>G	ENSP00000502513.1:p.Gly460=
ENST00000675693.1:c.1212A>G	ENSP00000502174.1:p.Gly404=
ENST00000675810.1:c.1278A>G	ENSP00000502743.1:p.Gly426=
ENST00000675859.1:c.1380A>G	ENSP00000502033.1:p.Gly460=
ENST00000675863.1:n.1388A>G
ENST00000675886.1:n.7420A>G
ENST00000676088.1:c.*1322A>G	ENSP00000501884.1:n.*1322A>G
ENST00000676140.1:c.*325A>G	ENSP00000502571.1:n.*325A>G
ENST00000676164.1:c.*831A>G	ENSP00000501986.1:n.*831A>G
ENST00000676210.1:c.*669A>G	ENSP00000502373.1:n.*669A>G
ENST00000676259.1:c.*812A>G	ENSP00000501980.1:n.*812A>G
ENST00000676403.1:c.1380A>G	ENSP00000502681.1:p.Gly460=
ENST00000389266.7:c.1380A>G	ENSP00000373918.3:p.Gly460=
ENST00000478124.5:n.1418A>G
ENST00000484093.1:n.379A>G
NM_001316772.1:c.1218A>G	NP_001303701.1:p.Gly406=
NM_002047.2:c.1380A>G , LRG_243t1:c.1380A>G	NP_002038.2:p.Gly460=
NM_002047.3:c.1380A>G	NP_002038.2:p.Gly460=
XM_006715686.1:c.1011A>G	XP_006715749.1:p.Gly337=
XM_006715686.2:c.1011A>G	XP_006715749.1:p.Gly337=
NM_002047.4:c.1380A>G MANE Select	NP_002038.2:p.Gly460=