Canonical Allele Identifier: CA367124820

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612101-T-G
• MyVariant Identifiers: chr7:g.30651717T>G (hg19) ; chr7:g.30612101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612101T>G , CM000669.2:g.30612101T>G	GRCh38
NC_000007.13:g.30651717T>G , CM000669.1:g.30651717T>G	GRCh37
NC_000007.12:g.30618242T>G	NCBI36
NG_007942.1:g.22537T>G , LRG_243:g.22537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.887T>G MANE Select	ENSP00000373918.3:p.Leu296Trp
ENST00000444666.6:c.887T>G	ENSP00000415447.2:p.Leu296Trp
ENST00000470392.2:n.977T>G
ENST00000478124.6:n.950T>G
ENST00000485784.2:n.966T>G
ENST00000674616.1:c.*601T>G	ENSP00000502408.1:n.*601T>G
ENST00000674643.1:c.887T>G	ENSP00000501636.1:p.Leu296Trp
ENST00000674734.1:n.1383T>G
ENST00000674737.1:c.*225T>G	ENSP00000502464.1:n.*225T>G
ENST00000674807.1:c.887T>G	ENSP00000502814.1:p.Leu296Trp
ENST00000674815.1:c.518T>G	ENSP00000502799.1:p.Leu173Trp
ENST00000674851.1:c.518T>G	ENSP00000502451.1:p.Leu173Trp
ENST00000674969.1:n.2760T>G
ENST00000675051.1:c.686T>G	ENSP00000502296.1:p.Leu229Trp
ENST00000675529.1:c.*757T>G	ENSP00000501655.1:n.*757T>G
ENST00000675587.1:n.903T>G
ENST00000675651.1:c.887T>G	ENSP00000502513.1:p.Leu296Trp
ENST00000675693.1:c.719T>G	ENSP00000502174.1:p.Leu240Trp
ENST00000675810.1:c.785T>G	ENSP00000502743.1:p.Leu262Trp
ENST00000675859.1:c.887T>G	ENSP00000502033.1:p.Leu296Trp
ENST00000675863.1:n.895T>G
ENST00000675886.1:n.6927T>G
ENST00000676088.1:c.*829T>G	ENSP00000501884.1:n.*829T>G
ENST00000676140.1:c.887T>G	ENSP00000502571.1:p.Leu296Trp
ENST00000676164.1:c.*338T>G	ENSP00000501986.1:n.*338T>G
ENST00000676210.1:c.*176T>G	ENSP00000502373.1:n.*176T>G
ENST00000676259.1:c.*319T>G	ENSP00000501980.1:n.*319T>G
ENST00000676403.1:c.887T>G	ENSP00000502681.1:p.Leu296Trp
ENST00000389266.7:c.887T>G	ENSP00000373918.3:p.Leu296Trp
ENST00000478124.5:n.925T>G
NM_001316772.1:c.725T>G	NP_001303701.1:p.Leu242Trp
NM_002047.2:c.887T>G , LRG_243t1:c.887T>G	NP_002038.2:p.Leu296Trp
NM_002047.3:c.887T>G	NP_002038.2:p.Leu296Trp
XM_006715686.1:c.518T>G	XP_006715749.1:p.Leu173Trp
XM_006715686.2:c.518T>G	XP_006715749.1:p.Leu173Trp
NM_002047.4:c.887T>G MANE Select	NP_002038.2:p.Leu296Trp