Canonical Allele Identifier: CA367124063

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649214G>T (hg19) ; chr7:g.30609598G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609598G>T , CM000669.2:g.30609598G>T	GRCh38
NC_000007.13:g.30649214G>T , CM000669.1:g.30649214G>T	GRCh37
NC_000007.12:g.30615739G>T	NCBI36
NG_007942.1:g.20034G>T , LRG_243:g.20034G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.749G>T MANE Select	ENSP00000373918.3:p.Gly250Val
ENST00000444666.6:c.749G>T	ENSP00000415447.2:p.Gly250Val
ENST00000470392.2:n.839G>T
ENST00000478124.6:n.812G>T
ENST00000485784.2:n.828G>T
ENST00000674616.1:c.*463G>T	ENSP00000502408.1:n.*463G>T
ENST00000674643.1:c.749G>T	ENSP00000501636.1:p.Gly250Val
ENST00000674734.1:n.1245G>T
ENST00000674737.1:c.*87G>T	ENSP00000502464.1:n.*87G>T
ENST00000674807.1:c.749G>T	ENSP00000502814.1:p.Gly250Val
ENST00000674815.1:c.380G>T	ENSP00000502799.1:p.Gly127Val
ENST00000674851.1:c.380G>T	ENSP00000502451.1:p.Gly127Val
ENST00000674969.1:n.2622G>T
ENST00000675051.1:c.548G>T	ENSP00000502296.1:p.Gly183Val
ENST00000675529.1:c.*619G>T	ENSP00000501655.1:n.*619G>T
ENST00000675587.1:n.765G>T
ENST00000675651.1:c.749G>T	ENSP00000502513.1:p.Gly250Val
ENST00000675693.1:c.581G>T	ENSP00000502174.1:p.Gly194Val
ENST00000675810.1:c.647G>T	ENSP00000502743.1:p.Gly216Val
ENST00000675859.1:c.749G>T	ENSP00000502033.1:p.Gly250Val
ENST00000675863.1:n.757G>T
ENST00000675886.1:n.6789G>T
ENST00000676088.1:c.*691G>T	ENSP00000501884.1:n.*691G>T
ENST00000676140.1:c.749G>T	ENSP00000502571.1:p.Gly250Val
ENST00000676164.1:c.*200G>T	ENSP00000501986.1:n.*200G>T
ENST00000676210.1:c.*38G>T	ENSP00000502373.1:n.*38G>T
ENST00000676259.1:c.*181G>T	ENSP00000501980.1:n.*181G>T
ENST00000676403.1:c.749G>T	ENSP00000502681.1:p.Gly250Val
ENST00000389266.7:c.749G>T	ENSP00000373918.3:p.Gly250Val
ENST00000478124.5:n.787G>T
NM_001316772.1:c.587G>T	NP_001303701.1:p.Gly196Val
NM_002047.2:c.749G>T , LRG_243t1:c.749G>T	NP_002038.2:p.Gly250Val
NM_002047.3:c.749G>T	NP_002038.2:p.Gly250Val
XM_006715686.1:c.380G>T	XP_006715749.1:p.Gly127Val
XM_006715686.2:c.380G>T	XP_006715749.1:p.Gly127Val
NM_002047.4:c.749G>T MANE Select	NP_002038.2:p.Gly250Val