Canonical Allele Identifier: CA367125610

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651858T>G (hg19) ; chr7:g.30612242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612242T>G , CM000669.2:g.30612242T>G	GRCh38
NC_000007.13:g.30651858T>G , CM000669.1:g.30651858T>G	GRCh37
NC_000007.12:g.30618383T>G	NCBI36
NG_007942.1:g.22678T>G , LRG_243:g.22678T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1028T>G MANE Select	ENSP00000373918.3:p.Val343Gly
ENST00000444666.6:c.1028T>G	ENSP00000415447.2:p.Val343Gly
ENST00000470392.2:n.1118T>G
ENST00000478124.6:n.1091T>G
ENST00000485784.2:n.1107T>G
ENST00000674616.1:c.*742T>G	ENSP00000502408.1:n.*742T>G
ENST00000674643.1:c.1028T>G	ENSP00000501636.1:p.Val343Gly
ENST00000674734.1:n.1524T>G
ENST00000674737.1:c.*366T>G	ENSP00000502464.1:n.*366T>G
ENST00000674807.1:c.1028T>G	ENSP00000502814.1:p.Val343Gly
ENST00000674815.1:c.659T>G	ENSP00000502799.1:p.Val220Gly
ENST00000674851.1:c.659T>G	ENSP00000502451.1:p.Val220Gly
ENST00000674969.1:n.2901T>G
ENST00000675051.1:c.827T>G	ENSP00000502296.1:p.Val276Gly
ENST00000675529.1:c.*898T>G	ENSP00000501655.1:n.*898T>G
ENST00000675587.1:n.1044T>G
ENST00000675651.1:c.1028T>G	ENSP00000502513.1:p.Val343Gly
ENST00000675693.1:c.860T>G	ENSP00000502174.1:p.Val287Gly
ENST00000675810.1:c.926T>G	ENSP00000502743.1:p.Val309Gly
ENST00000675859.1:c.1028T>G	ENSP00000502033.1:p.Val343Gly
ENST00000675863.1:n.1036T>G
ENST00000675886.1:n.7068T>G
ENST00000676088.1:c.*970T>G	ENSP00000501884.1:n.*970T>G
ENST00000676140.1:c.1028T>G	ENSP00000502571.1:p.Val343Gly
ENST00000676164.1:c.*479T>G	ENSP00000501986.1:n.*479T>G
ENST00000676210.1:c.*317T>G	ENSP00000502373.1:n.*317T>G
ENST00000676259.1:c.*460T>G	ENSP00000501980.1:n.*460T>G
ENST00000676403.1:c.1028T>G	ENSP00000502681.1:p.Val343Gly
ENST00000389266.7:c.1028T>G	ENSP00000373918.3:p.Val343Gly
ENST00000478124.5:n.1066T>G
NM_001316772.1:c.866T>G	NP_001303701.1:p.Val289Gly
NM_002047.2:c.1028T>G , LRG_243t1:c.1028T>G	NP_002038.2:p.Val343Gly
NM_002047.3:c.1028T>G	NP_002038.2:p.Val343Gly
XM_006715686.1:c.659T>G	XP_006715749.1:p.Val220Gly
XM_006715686.2:c.659T>G	XP_006715749.1:p.Val220Gly
NM_002047.4:c.1028T>G MANE Select	NP_002038.2:p.Val343Gly