Canonical Allele Identifier: CA367124133

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649226T>A (hg19) ; chr7:g.30609610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609610T>A , CM000669.2:g.30609610T>A	GRCh38
NC_000007.13:g.30649226T>A , CM000669.1:g.30649226T>A	GRCh37
NC_000007.12:g.30615751T>A	NCBI36
NG_007942.1:g.20046T>A , LRG_243:g.20046T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.761T>A MANE Select	ENSP00000373918.3:p.Leu254His
ENST00000444666.6:c.761T>A	ENSP00000415447.2:p.Leu254His
ENST00000470392.2:n.851T>A
ENST00000478124.6:n.824T>A
ENST00000485784.2:n.840T>A
ENST00000674616.1:c.*475T>A	ENSP00000502408.1:n.*475T>A
ENST00000674643.1:c.761T>A	ENSP00000501636.1:p.Leu254His
ENST00000674734.1:n.1257T>A
ENST00000674737.1:c.*99T>A	ENSP00000502464.1:n.*99T>A
ENST00000674807.1:c.761T>A	ENSP00000502814.1:p.Leu254His
ENST00000674815.1:c.392T>A	ENSP00000502799.1:p.Leu131His
ENST00000674851.1:c.392T>A	ENSP00000502451.1:p.Leu131His
ENST00000674969.1:n.2634T>A
ENST00000675051.1:c.560T>A	ENSP00000502296.1:p.Leu187His
ENST00000675529.1:c.*631T>A	ENSP00000501655.1:n.*631T>A
ENST00000675587.1:n.777T>A
ENST00000675651.1:c.761T>A	ENSP00000502513.1:p.Leu254His
ENST00000675693.1:c.593T>A	ENSP00000502174.1:p.Leu198His
ENST00000675810.1:c.659T>A	ENSP00000502743.1:p.Leu220His
ENST00000675859.1:c.761T>A	ENSP00000502033.1:p.Leu254His
ENST00000675863.1:n.769T>A
ENST00000675886.1:n.6801T>A
ENST00000676088.1:c.*703T>A	ENSP00000501884.1:n.*703T>A
ENST00000676140.1:c.761T>A	ENSP00000502571.1:p.Leu254His
ENST00000676164.1:c.*212T>A	ENSP00000501986.1:n.*212T>A
ENST00000676210.1:c.*50T>A	ENSP00000502373.1:n.*50T>A
ENST00000676259.1:c.*193T>A	ENSP00000501980.1:n.*193T>A
ENST00000676403.1:c.761T>A	ENSP00000502681.1:p.Leu254His
ENST00000389266.7:c.761T>A	ENSP00000373918.3:p.Leu254His
ENST00000478124.5:n.799T>A
NM_001316772.1:c.599T>A	NP_001303701.1:p.Leu200His
NM_002047.2:c.761T>A , LRG_243t1:c.761T>A	NP_002038.2:p.Leu254His
NM_002047.3:c.761T>A	NP_002038.2:p.Leu254His
XM_006715686.1:c.392T>A	XP_006715749.1:p.Leu131His
XM_006715686.2:c.392T>A	XP_006715749.1:p.Leu131His
NM_002047.4:c.761T>A MANE Select	NP_002038.2:p.Leu254His