Canonical Allele Identifier: CA367124981

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612148-T-G
• MyVariant Identifiers: chr7:g.30651764T>G (hg19) ; chr7:g.30612148T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612148T>G , CM000669.2:g.30612148T>G	GRCh38
NC_000007.13:g.30651764T>G , CM000669.1:g.30651764T>G	GRCh37
NC_000007.12:g.30618289T>G	NCBI36
NG_007942.1:g.22584T>G , LRG_243:g.22584T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.934T>G MANE Select	ENSP00000373918.3:p.Leu312Val
ENST00000444666.6:c.934T>G	ENSP00000415447.2:p.Leu312Val
ENST00000470392.2:n.1024T>G
ENST00000478124.6:n.997T>G
ENST00000485784.2:n.1013T>G
ENST00000674616.1:c.*648T>G	ENSP00000502408.1:n.*648T>G
ENST00000674643.1:c.934T>G	ENSP00000501636.1:p.Leu312Val
ENST00000674734.1:n.1430T>G
ENST00000674737.1:c.*272T>G	ENSP00000502464.1:n.*272T>G
ENST00000674807.1:c.934T>G	ENSP00000502814.1:p.Leu312Val
ENST00000674815.1:c.565T>G	ENSP00000502799.1:p.Leu189Val
ENST00000674851.1:c.565T>G	ENSP00000502451.1:p.Leu189Val
ENST00000674969.1:n.2807T>G
ENST00000675051.1:c.733T>G	ENSP00000502296.1:p.Leu245Val
ENST00000675529.1:c.*804T>G	ENSP00000501655.1:n.*804T>G
ENST00000675587.1:n.950T>G
ENST00000675651.1:c.934T>G	ENSP00000502513.1:p.Leu312Val
ENST00000675693.1:c.766T>G	ENSP00000502174.1:p.Leu256Val
ENST00000675810.1:c.832T>G	ENSP00000502743.1:p.Leu278Val
ENST00000675859.1:c.934T>G	ENSP00000502033.1:p.Leu312Val
ENST00000675863.1:n.942T>G
ENST00000675886.1:n.6974T>G
ENST00000676088.1:c.*876T>G	ENSP00000501884.1:n.*876T>G
ENST00000676140.1:c.934T>G	ENSP00000502571.1:p.Leu312Val
ENST00000676164.1:c.*385T>G	ENSP00000501986.1:n.*385T>G
ENST00000676210.1:c.*223T>G	ENSP00000502373.1:n.*223T>G
ENST00000676259.1:c.*366T>G	ENSP00000501980.1:n.*366T>G
ENST00000676403.1:c.934T>G	ENSP00000502681.1:p.Leu312Val
ENST00000389266.7:c.934T>G	ENSP00000373918.3:p.Leu312Val
ENST00000478124.5:n.972T>G
NM_001316772.1:c.772T>G	NP_001303701.1:p.Leu258Val
NM_002047.2:c.934T>G , LRG_243t1:c.934T>G	NP_002038.2:p.Leu312Val
NM_002047.3:c.934T>G	NP_002038.2:p.Leu312Val
XM_006715686.1:c.565T>G	XP_006715749.1:p.Leu189Val
XM_006715686.2:c.565T>G	XP_006715749.1:p.Leu189Val
NM_002047.4:c.934T>G MANE Select	NP_002038.2:p.Leu312Val