Canonical Allele Identifier: CA367128207

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661069C>G (hg19) ; chr7:g.30621453C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621453C>G , CM000669.2:g.30621453C>G	GRCh38
NC_000007.13:g.30661069C>G , CM000669.1:g.30661069C>G	GRCh37
NC_000007.12:g.30627594C>G	NCBI36
NG_007942.1:g.31889C>G , LRG_243:g.31889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1420C>G MANE Select	ENSP00000373918.3:p.Arg474Gly
ENST00000444666.6:c.1420C>G	ENSP00000415447.2:p.Arg474Gly
ENST00000470392.2:n.1510C>G
ENST00000478124.6:n.1483C>G
ENST00000485784.2:n.1499C>G
ENST00000674616.1:c.*1134C>G	ENSP00000502408.1:n.*1134C>G
ENST00000674643.1:c.*520C>G	ENSP00000501636.1:n.*520C>G
ENST00000674734.1:n.1916C>G
ENST00000674737.1:c.*758C>G	ENSP00000502464.1:n.*758C>G
ENST00000674807.1:c.1420C>G	ENSP00000502814.1:p.Arg474Gly
ENST00000674815.1:c.1051C>G	ENSP00000502799.1:p.Arg351Gly
ENST00000674851.1:c.1051C>G	ENSP00000502451.1:p.Arg351Gly
ENST00000674969.1:n.3293C>G
ENST00000675051.1:c.1219C>G	ENSP00000502296.1:p.Arg407Gly
ENST00000675529.1:c.*1290C>G	ENSP00000501655.1:n.*1290C>G
ENST00000675587.1:n.1436C>G
ENST00000675651.1:c.1420C>G	ENSP00000502513.1:p.Arg474Gly
ENST00000675693.1:c.1252C>G	ENSP00000502174.1:p.Arg418Gly
ENST00000675810.1:c.1318C>G	ENSP00000502743.1:p.Arg440Gly
ENST00000675859.1:c.1420C>G	ENSP00000502033.1:p.Arg474Gly
ENST00000675863.1:n.1428C>G
ENST00000675886.1:n.7460C>G
ENST00000676088.1:c.*1362C>G	ENSP00000501884.1:n.*1362C>G
ENST00000676140.1:c.*365C>G	ENSP00000502571.1:n.*365C>G
ENST00000676164.1:c.*871C>G	ENSP00000501986.1:n.*871C>G
ENST00000676210.1:c.*709C>G	ENSP00000502373.1:n.*709C>G
ENST00000676259.1:c.*852C>G	ENSP00000501980.1:n.*852C>G
ENST00000676403.1:c.1420C>G	ENSP00000502681.1:p.Arg474Gly
ENST00000389266.7:c.1420C>G	ENSP00000373918.3:p.Arg474Gly
ENST00000478124.5:n.1458C>G
ENST00000484093.1:n.419C>G
NM_001316772.1:c.1258C>G	NP_001303701.1:p.Arg420Gly
NM_002047.2:c.1420C>G , LRG_243t1:c.1420C>G	NP_002038.2:p.Arg474Gly
NM_002047.3:c.1420C>G	NP_002038.2:p.Arg474Gly
XM_006715686.1:c.1051C>G	XP_006715749.1:p.Arg351Gly
XM_006715686.2:c.1051C>G	XP_006715749.1:p.Arg351Gly
NM_002047.4:c.1420C>G MANE Select	NP_002038.2:p.Arg474Gly