Canonical Allele Identifier: CA367125001

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651769G>T (hg19) ; chr7:g.30612153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612153G>T , CM000669.2:g.30612153G>T	GRCh38
NC_000007.13:g.30651769G>T , CM000669.1:g.30651769G>T	GRCh37
NC_000007.12:g.30618294G>T	NCBI36
NG_007942.1:g.22589G>T , LRG_243:g.22589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.939G>T MANE Select	ENSP00000373918.3:p.Glu313Asp
ENST00000444666.6:c.939G>T	ENSP00000415447.2:p.Glu313Asp
ENST00000470392.2:n.1029G>T
ENST00000478124.6:n.1002G>T
ENST00000485784.2:n.1018G>T
ENST00000674616.1:c.*653G>T	ENSP00000502408.1:n.*653G>T
ENST00000674643.1:c.939G>T	ENSP00000501636.1:p.Glu313Asp
ENST00000674734.1:n.1435G>T
ENST00000674737.1:c.*277G>T	ENSP00000502464.1:n.*277G>T
ENST00000674807.1:c.939G>T	ENSP00000502814.1:p.Glu313Asp
ENST00000674815.1:c.570G>T	ENSP00000502799.1:p.Glu190Asp
ENST00000674851.1:c.570G>T	ENSP00000502451.1:p.Glu190Asp
ENST00000674969.1:n.2812G>T
ENST00000675051.1:c.738G>T	ENSP00000502296.1:p.Glu246Asp
ENST00000675529.1:c.*809G>T	ENSP00000501655.1:n.*809G>T
ENST00000675587.1:n.955G>T
ENST00000675651.1:c.939G>T	ENSP00000502513.1:p.Glu313Asp
ENST00000675693.1:c.771G>T	ENSP00000502174.1:p.Glu257Asp
ENST00000675810.1:c.837G>T	ENSP00000502743.1:p.Glu279Asp
ENST00000675859.1:c.939G>T	ENSP00000502033.1:p.Glu313Asp
ENST00000675863.1:n.947G>T
ENST00000675886.1:n.6979G>T
ENST00000676088.1:c.*881G>T	ENSP00000501884.1:n.*881G>T
ENST00000676140.1:c.939G>T	ENSP00000502571.1:p.Glu313Asp
ENST00000676164.1:c.*390G>T	ENSP00000501986.1:n.*390G>T
ENST00000676210.1:c.*228G>T	ENSP00000502373.1:n.*228G>T
ENST00000676259.1:c.*371G>T	ENSP00000501980.1:n.*371G>T
ENST00000676403.1:c.939G>T	ENSP00000502681.1:p.Glu313Asp
ENST00000389266.7:c.939G>T	ENSP00000373918.3:p.Glu313Asp
ENST00000478124.5:n.977G>T
NM_001316772.1:c.777G>T	NP_001303701.1:p.Glu259Asp
NM_002047.2:c.939G>T , LRG_243t1:c.939G>T	NP_002038.2:p.Glu313Asp
NM_002047.3:c.939G>T	NP_002038.2:p.Glu313Asp
XM_006715686.1:c.570G>T	XP_006715749.1:p.Glu190Asp
XM_006715686.2:c.570G>T	XP_006715749.1:p.Glu190Asp
NM_002047.4:c.939G>T MANE Select	NP_002038.2:p.Glu313Asp