Canonical Allele Identifier: CA367124431

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649273A>G (hg19) ; chr7:g.30609657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609657A>G , CM000669.2:g.30609657A>G	GRCh38
NC_000007.13:g.30649273A>G , CM000669.1:g.30649273A>G	GRCh37
NC_000007.12:g.30615798A>G	NCBI36
NG_007942.1:g.20093A>G , LRG_243:g.20093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.808A>G MANE Select	ENSP00000373918.3:p.Asn270Asp
ENST00000444666.6:c.808A>G	ENSP00000415447.2:p.Asn270Asp
ENST00000470392.2:n.898A>G
ENST00000478124.6:n.871A>G
ENST00000485784.2:n.887A>G
ENST00000674616.1:c.*522A>G	ENSP00000502408.1:n.*522A>G
ENST00000674643.1:c.808A>G	ENSP00000501636.1:p.Asn270Asp
ENST00000674734.1:n.1304A>G
ENST00000674737.1:c.*146A>G	ENSP00000502464.1:n.*146A>G
ENST00000674807.1:c.808A>G	ENSP00000502814.1:p.Asn270Asp
ENST00000674815.1:c.439A>G	ENSP00000502799.1:p.Asn147Asp
ENST00000674851.1:c.439A>G	ENSP00000502451.1:p.Asn147Asp
ENST00000674969.1:n.2681A>G
ENST00000675051.1:c.607A>G	ENSP00000502296.1:p.Asn203Asp
ENST00000675529.1:c.*678A>G	ENSP00000501655.1:n.*678A>G
ENST00000675587.1:n.824A>G
ENST00000675651.1:c.808A>G	ENSP00000502513.1:p.Asn270Asp
ENST00000675693.1:c.640A>G	ENSP00000502174.1:p.Asn214Asp
ENST00000675810.1:c.706A>G	ENSP00000502743.1:p.Asn236Asp
ENST00000675859.1:c.808A>G	ENSP00000502033.1:p.Asn270Asp
ENST00000675863.1:n.816A>G
ENST00000675886.1:n.6848A>G
ENST00000676088.1:c.*750A>G	ENSP00000501884.1:n.*750A>G
ENST00000676140.1:c.808A>G	ENSP00000502571.1:p.Asn270Asp
ENST00000676164.1:c.*259A>G	ENSP00000501986.1:n.*259A>G
ENST00000676210.1:c.*97A>G	ENSP00000502373.1:n.*97A>G
ENST00000676259.1:c.*240A>G	ENSP00000501980.1:n.*240A>G
ENST00000676403.1:c.808A>G	ENSP00000502681.1:p.Asn270Asp
ENST00000389266.7:c.808A>G	ENSP00000373918.3:p.Asn270Asp
ENST00000478124.5:n.846A>G
NM_001316772.1:c.646A>G	NP_001303701.1:p.Asn216Asp
NM_002047.2:c.808A>G , LRG_243t1:c.808A>G	NP_002038.2:p.Asn270Asp
NM_002047.3:c.808A>G	NP_002038.2:p.Asn270Asp
XM_006715686.1:c.439A>G	XP_006715749.1:p.Asn147Asp
XM_006715686.2:c.439A>G	XP_006715749.1:p.Asn147Asp
NM_002047.4:c.808A>G MANE Select	NP_002038.2:p.Asn270Asp