Canonical Allele Identifier: CA367124101

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649223A>T (hg19) ; chr7:g.30609607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609607A>T , CM000669.2:g.30609607A>T	GRCh38
NC_000007.13:g.30649223A>T , CM000669.1:g.30649223A>T	GRCh37
NC_000007.12:g.30615748A>T	NCBI36
NG_007942.1:g.20043A>T , LRG_243:g.20043A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.758A>T MANE Select	ENSP00000373918.3:p.Glu253Val
ENST00000444666.6:c.758A>T	ENSP00000415447.2:p.Glu253Val
ENST00000470392.2:n.848A>T
ENST00000478124.6:n.821A>T
ENST00000485784.2:n.837A>T
ENST00000674616.1:c.*472A>T	ENSP00000502408.1:n.*472A>T
ENST00000674643.1:c.758A>T	ENSP00000501636.1:p.Glu253Val
ENST00000674734.1:n.1254A>T
ENST00000674737.1:c.*96A>T	ENSP00000502464.1:n.*96A>T
ENST00000674807.1:c.758A>T	ENSP00000502814.1:p.Glu253Val
ENST00000674815.1:c.389A>T	ENSP00000502799.1:p.Glu130Val
ENST00000674851.1:c.389A>T	ENSP00000502451.1:p.Glu130Val
ENST00000674969.1:n.2631A>T
ENST00000675051.1:c.557A>T	ENSP00000502296.1:p.Glu186Val
ENST00000675529.1:c.*628A>T	ENSP00000501655.1:n.*628A>T
ENST00000675587.1:n.774A>T
ENST00000675651.1:c.758A>T	ENSP00000502513.1:p.Glu253Val
ENST00000675693.1:c.590A>T	ENSP00000502174.1:p.Glu197Val
ENST00000675810.1:c.656A>T	ENSP00000502743.1:p.Glu219Val
ENST00000675859.1:c.758A>T	ENSP00000502033.1:p.Glu253Val
ENST00000675863.1:n.766A>T
ENST00000675886.1:n.6798A>T
ENST00000676088.1:c.*700A>T	ENSP00000501884.1:n.*700A>T
ENST00000676140.1:c.758A>T	ENSP00000502571.1:p.Glu253Val
ENST00000676164.1:c.*209A>T	ENSP00000501986.1:n.*209A>T
ENST00000676210.1:c.*47A>T	ENSP00000502373.1:n.*47A>T
ENST00000676259.1:c.*190A>T	ENSP00000501980.1:n.*190A>T
ENST00000676403.1:c.758A>T	ENSP00000502681.1:p.Glu253Val
ENST00000389266.7:c.758A>T	ENSP00000373918.3:p.Glu253Val
ENST00000478124.5:n.796A>T
NM_001316772.1:c.596A>T	NP_001303701.1:p.Glu199Val
NM_002047.2:c.758A>T , LRG_243t1:c.758A>T	NP_002038.2:p.Glu253Val
NM_002047.3:c.758A>T	NP_002038.2:p.Glu253Val
XM_006715686.1:c.389A>T	XP_006715749.1:p.Glu130Val
XM_006715686.2:c.389A>T	XP_006715749.1:p.Glu130Val
NM_002047.4:c.758A>T MANE Select	NP_002038.2:p.Glu253Val