Canonical Allele Identifier: CA367124509

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649291G>A (hg19) ; chr7:g.30609675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609675G>A , CM000669.2:g.30609675G>A	GRCh38
NC_000007.13:g.30649291G>A , CM000669.1:g.30649291G>A	GRCh37
NC_000007.12:g.30615816G>A	NCBI36
NG_007942.1:g.20111G>A , LRG_243:g.20111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.826G>A MANE Select	ENSP00000373918.3:p.Val276Met
ENST00000444666.6:c.826G>A	ENSP00000415447.2:p.Val276Met
ENST00000470392.2:n.916G>A
ENST00000478124.6:n.889G>A
ENST00000485784.2:n.905G>A
ENST00000674616.1:c.*540G>A	ENSP00000502408.1:n.*540G>A
ENST00000674643.1:c.826G>A	ENSP00000501636.1:p.Val276Met
ENST00000674734.1:n.1322G>A
ENST00000674737.1:c.*164G>A	ENSP00000502464.1:n.*164G>A
ENST00000674807.1:c.826G>A	ENSP00000502814.1:p.Val276Met
ENST00000674815.1:c.457G>A	ENSP00000502799.1:p.Val153Met
ENST00000674851.1:c.457G>A	ENSP00000502451.1:p.Val153Met
ENST00000674969.1:n.2699G>A
ENST00000675051.1:c.625G>A	ENSP00000502296.1:p.Val209Met
ENST00000675529.1:c.*696G>A	ENSP00000501655.1:n.*696G>A
ENST00000675587.1:n.842G>A
ENST00000675651.1:c.826G>A	ENSP00000502513.1:p.Val276Met
ENST00000675693.1:c.658G>A	ENSP00000502174.1:p.Val220Met
ENST00000675810.1:c.724G>A	ENSP00000502743.1:p.Val242Met
ENST00000675859.1:c.826G>A	ENSP00000502033.1:p.Val276Met
ENST00000675863.1:n.834G>A
ENST00000675886.1:n.6866G>A
ENST00000676088.1:c.*768G>A	ENSP00000501884.1:n.*768G>A
ENST00000676140.1:c.826G>A	ENSP00000502571.1:p.Val276Met
ENST00000676164.1:c.*277G>A	ENSP00000501986.1:n.*277G>A
ENST00000676210.1:c.*115G>A	ENSP00000502373.1:n.*115G>A
ENST00000676259.1:c.*258G>A	ENSP00000501980.1:n.*258G>A
ENST00000676403.1:c.826G>A	ENSP00000502681.1:p.Val276Met
ENST00000389266.7:c.826G>A	ENSP00000373918.3:p.Val276Met
ENST00000478124.5:n.864G>A
NM_001316772.1:c.664G>A	NP_001303701.1:p.Val222Met
NM_002047.2:c.826G>A , LRG_243t1:c.826G>A	NP_002038.2:p.Val276Met
NM_002047.3:c.826G>A	NP_002038.2:p.Val276Met
XM_006715686.1:c.457G>A	XP_006715749.1:p.Val153Met
XM_006715686.2:c.457G>A	XP_006715749.1:p.Val153Met
NM_002047.4:c.826G>A MANE Select	NP_002038.2:p.Val276Met