Canonical Allele Identifier: CA367125568

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651846G>T (hg19) ; chr7:g.30612230G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612230G>T , CM000669.2:g.30612230G>T	GRCh38
NC_000007.13:g.30651846G>T , CM000669.1:g.30651846G>T	GRCh37
NC_000007.12:g.30618371G>T	NCBI36
NG_007942.1:g.22666G>T , LRG_243:g.22666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1016G>T MANE Select	ENSP00000373918.3:p.Gly339Val
ENST00000444666.6:c.1016G>T	ENSP00000415447.2:p.Gly339Val
ENST00000470392.2:n.1106G>T
ENST00000478124.6:n.1079G>T
ENST00000485784.2:n.1095G>T
ENST00000674616.1:c.*730G>T	ENSP00000502408.1:n.*730G>T
ENST00000674643.1:c.1016G>T	ENSP00000501636.1:p.Gly339Val
ENST00000674734.1:n.1512G>T
ENST00000674737.1:c.*354G>T	ENSP00000502464.1:n.*354G>T
ENST00000674807.1:c.1016G>T	ENSP00000502814.1:p.Gly339Val
ENST00000674815.1:c.647G>T	ENSP00000502799.1:p.Gly216Val
ENST00000674851.1:c.647G>T	ENSP00000502451.1:p.Gly216Val
ENST00000674969.1:n.2889G>T
ENST00000675051.1:c.815G>T	ENSP00000502296.1:p.Gly272Val
ENST00000675529.1:c.*886G>T	ENSP00000501655.1:n.*886G>T
ENST00000675587.1:n.1032G>T
ENST00000675651.1:c.1016G>T	ENSP00000502513.1:p.Gly339Val
ENST00000675693.1:c.848G>T	ENSP00000502174.1:p.Gly283Val
ENST00000675810.1:c.914G>T	ENSP00000502743.1:p.Gly305Val
ENST00000675859.1:c.1016G>T	ENSP00000502033.1:p.Gly339Val
ENST00000675863.1:n.1024G>T
ENST00000675886.1:n.7056G>T
ENST00000676088.1:c.*958G>T	ENSP00000501884.1:n.*958G>T
ENST00000676140.1:c.1016G>T	ENSP00000502571.1:p.Gly339Val
ENST00000676164.1:c.*467G>T	ENSP00000501986.1:n.*467G>T
ENST00000676210.1:c.*305G>T	ENSP00000502373.1:n.*305G>T
ENST00000676259.1:c.*448G>T	ENSP00000501980.1:n.*448G>T
ENST00000676403.1:c.1016G>T	ENSP00000502681.1:p.Gly339Val
ENST00000389266.7:c.1016G>T	ENSP00000373918.3:p.Gly339Val
ENST00000478124.5:n.1054G>T
NM_001316772.1:c.854G>T	NP_001303701.1:p.Gly285Val
NM_002047.2:c.1016G>T , LRG_243t1:c.1016G>T	NP_002038.2:p.Gly339Val
NM_002047.3:c.1016G>T	NP_002038.2:p.Gly339Val
XM_006715686.1:c.647G>T	XP_006715749.1:p.Gly216Val
XM_006715686.2:c.647G>T	XP_006715749.1:p.Gly216Val
NM_002047.4:c.1016G>T MANE Select	NP_002038.2:p.Gly339Val