Canonical Allele Identifier: CA367124609

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649313A>T (hg19) ; chr7:g.30609697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609697A>T , CM000669.2:g.30609697A>T	GRCh38
NC_000007.13:g.30649313A>T , CM000669.1:g.30649313A>T	GRCh37
NC_000007.12:g.30615838A>T	NCBI36
NG_007942.1:g.20133A>T , LRG_243:g.20133A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.848A>T MANE Select	ENSP00000373918.3:p.Lys283Met
ENST00000444666.6:c.848A>T	ENSP00000415447.2:p.Lys283Met
ENST00000470392.2:n.938A>T
ENST00000478124.6:n.911A>T
ENST00000485784.2:n.927A>T
ENST00000674616.1:c.*562A>T	ENSP00000502408.1:n.*562A>T
ENST00000674643.1:c.848A>T	ENSP00000501636.1:p.Lys283Met
ENST00000674734.1:n.1344A>T
ENST00000674737.1:c.*186A>T	ENSP00000502464.1:n.*186A>T
ENST00000674807.1:c.848A>T	ENSP00000502814.1:p.Lys283Met
ENST00000674815.1:c.479A>T	ENSP00000502799.1:p.Lys160Met
ENST00000674851.1:c.479A>T	ENSP00000502451.1:p.Lys160Met
ENST00000674969.1:n.2721A>T
ENST00000675051.1:c.647A>T	ENSP00000502296.1:p.Lys216Met
ENST00000675529.1:c.*718A>T	ENSP00000501655.1:n.*718A>T
ENST00000675587.1:n.864A>T
ENST00000675651.1:c.848A>T	ENSP00000502513.1:p.Lys283Met
ENST00000675693.1:c.680A>T	ENSP00000502174.1:p.Lys227Met
ENST00000675810.1:c.746A>T	ENSP00000502743.1:p.Lys249Met
ENST00000675859.1:c.848A>T	ENSP00000502033.1:p.Lys283Met
ENST00000675863.1:n.856A>T
ENST00000675886.1:n.6888A>T
ENST00000676088.1:c.*790A>T	ENSP00000501884.1:n.*790A>T
ENST00000676140.1:c.848A>T	ENSP00000502571.1:p.Lys283Met
ENST00000676164.1:c.*299A>T	ENSP00000501986.1:n.*299A>T
ENST00000676210.1:c.*137A>T	ENSP00000502373.1:n.*137A>T
ENST00000676259.1:c.*280A>T	ENSP00000501980.1:n.*280A>T
ENST00000676403.1:c.848A>T	ENSP00000502681.1:p.Lys283Met
ENST00000389266.7:c.848A>T	ENSP00000373918.3:p.Lys283Met
ENST00000478124.5:n.886A>T
NM_001316772.1:c.686A>T	NP_001303701.1:p.Lys229Met
NM_002047.2:c.848A>T , LRG_243t1:c.848A>T	NP_002038.2:p.Lys283Met
NM_002047.3:c.848A>T	NP_002038.2:p.Lys283Met
XM_006715686.1:c.479A>T	XP_006715749.1:p.Lys160Met
XM_006715686.2:c.479A>T	XP_006715749.1:p.Lys160Met
NM_002047.4:c.848A>T MANE Select	NP_002038.2:p.Lys283Met