Canonical Allele Identifier: CA203472

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609652C>T , CM000669.2:g.30609652C>T	GRCh38
NC_000007.13:g.30649268C>T , CM000669.1:g.30649268C>T	GRCh37
NC_000007.12:g.30615793C>T	NCBI36
NG_007942.1:g.20088C>T , LRG_243:g.20088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.803C>T MANE Select	ENSP00000373918.3:p.Thr268Ile
ENST00000444666.6:c.803C>T	ENSP00000415447.2:p.Thr268Ile
ENST00000470392.2:n.893C>T
ENST00000478124.6:n.866C>T
ENST00000485784.2:n.882C>T
ENST00000674616.1:c.*517C>T	ENSP00000502408.1:n.*517C>T
ENST00000674643.1:c.803C>T	ENSP00000501636.1:p.Thr268Ile
ENST00000674734.1:n.1299C>T
ENST00000674737.1:c.*141C>T	ENSP00000502464.1:n.*141C>T
ENST00000674807.1:c.803C>T	ENSP00000502814.1:p.Thr268Ile
ENST00000674815.1:c.434C>T	ENSP00000502799.1:p.Thr145Ile
ENST00000674851.1:c.434C>T	ENSP00000502451.1:p.Thr145Ile
ENST00000674969.1:n.2676C>T
ENST00000675051.1:c.602C>T	ENSP00000502296.1:p.Thr201Ile
ENST00000675529.1:c.*673C>T	ENSP00000501655.1:n.*673C>T
ENST00000675587.1:n.819C>T
ENST00000675651.1:c.803C>T	ENSP00000502513.1:p.Thr268Ile
ENST00000675693.1:c.635C>T	ENSP00000502174.1:p.Thr212Ile
ENST00000675810.1:c.701C>T	ENSP00000502743.1:p.Thr234Ile
ENST00000675859.1:c.803C>T	ENSP00000502033.1:p.Thr268Ile
ENST00000675863.1:n.811C>T
ENST00000675886.1:n.6843C>T
ENST00000676088.1:c.*745C>T	ENSP00000501884.1:n.*745C>T
ENST00000676140.1:c.803C>T	ENSP00000502571.1:p.Thr268Ile
ENST00000676164.1:c.*254C>T	ENSP00000501986.1:n.*254C>T
ENST00000676210.1:c.*92C>T	ENSP00000502373.1:n.*92C>T
ENST00000676259.1:c.*235C>T	ENSP00000501980.1:n.*235C>T
ENST00000676403.1:c.803C>T	ENSP00000502681.1:p.Thr268Ile
ENST00000389266.7:c.803C>T	ENSP00000373918.3:p.Thr268Ile
ENST00000478124.5:n.841C>T
NM_001316772.1:c.641C>T	NP_001303701.1:p.Thr214Ile
NM_002047.2:c.803C>T , LRG_243t1:c.803C>T	NP_002038.2:p.Thr268Ile
NM_002047.3:c.803C>T	NP_002038.2:p.Thr268Ile
XM_006715686.1:c.434C>T	XP_006715749.1:p.Thr145Ile
XM_006715686.2:c.434C>T	XP_006715749.1:p.Thr145Ile
NM_002047.4:c.803C>T MANE Select	NP_002038.2:p.Thr268Ile