Canonical Allele Identifier: CA4205995

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30622392G>A , CM000669.2:g.30622392G>A	GRCh38
NC_000007.13:g.30662008G>A , CM000669.1:g.30662008G>A	GRCh37
NC_000007.12:g.30628533G>A	NCBI36
NG_007942.1:g.32828G>A , LRG_243:g.32828G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.1543G>A MANE Select	NP_002038.2:p.Val515Met
ENST00000389266.8:c.1543G>A MANE Select	ENSP00000373918.3:p.Val515Met
NM_001316772.1:c.1381G>A	NP_001303701.1:p.Val461Met
NM_002047.2:c.1543G>A , LRG_243t1:c.1543G>A	NP_002038.2:p.Val515Met
NM_002047.3:c.1543G>A	NP_002038.2:p.Val515Met
ENST00000389266.7:c.1543G>A	ENSP00000373918.3:p.Val515Met
ENST00000444666.5:c.64G>A	ENSP00000415447.1:p.Val22Met
ENST00000444666.6:c.1543G>A	ENSP00000415447.2:p.Val515Met
ENST00000470392.1:n.265G>A
ENST00000470392.2:n.1633G>A
ENST00000478124.5:n.1581G>A
ENST00000478124.6:n.1606G>A
ENST00000485784.2:n.1622G>A
ENST00000674616.1:c.*1257G>A	ENSP00000502408.1:n.*1257G>A
ENST00000674643.1:c.*643G>A	ENSP00000501636.1:n.*643G>A
ENST00000674734.1:n.2855G>A
ENST00000674737.1:c.*881G>A	ENSP00000502464.1:n.*881G>A
ENST00000674807.1:c.1543G>A	ENSP00000502814.1:p.Val515Met
ENST00000674815.1:c.1174G>A	ENSP00000502799.1:p.Val392Met
ENST00000674851.1:c.1174G>A	ENSP00000502451.1:p.Val392Met
ENST00000674969.1:n.3416G>A
ENST00000675051.1:c.1342G>A	ENSP00000502296.1:p.Val448Met
ENST00000675529.1:c.*1413G>A	ENSP00000501655.1:n.*1413G>A
ENST00000675587.1:n.2375G>A
ENST00000675651.1:c.1543G>A	ENSP00000502513.1:p.Val515Met
ENST00000675693.1:c.1375G>A	ENSP00000502174.1:p.Val459Met
ENST00000675810.1:c.1441G>A	ENSP00000502743.1:p.Val481Met
ENST00000675859.1:c.1543G>A	ENSP00000502033.1:p.Val515Met
ENST00000675863.1:n.1551G>A
ENST00000675886.1:n.7583G>A
ENST00000676088.1:c.*1485G>A	ENSP00000501884.1:n.*1485G>A
ENST00000676140.1:c.*488G>A	ENSP00000502571.1:n.*488G>A
ENST00000676164.1:c.*994G>A	ENSP00000501986.1:n.*994G>A
ENST00000676210.1:c.*832G>A	ENSP00000502373.1:n.*832G>A
ENST00000676259.1:c.*975G>A	ENSP00000501980.1:n.*975G>A
ENST00000676403.1:c.1543G>A	ENSP00000502681.1:p.Val515Met
XM_006715686.1:c.1174G>A	XP_006715749.1:p.Val392Met
XM_006715686.2:c.1174G>A	XP_006715749.1:p.Val392Met