Canonical Allele Identifier: CA4205609

Gene: GARS1

Linked Data

• dbSNP Id: rs775001026
• ExAC: 7:30634754 C / G
• gnomAD v2: 7-30634754-C-G
• gnomAD v4: 7-30595138-C-G
• MyVariant Identifiers: chr7:g.30634754C>G (hg19) ; chr7:g.30595138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595138C>G , CM000669.2:g.30595138C>G	GRCh38
NC_000007.13:g.30634754C>G , CM000669.1:g.30634754C>G	GRCh37
NC_000007.12:g.30601279C>G	NCBI36
NG_007942.1:g.5574C>G , LRG_243:g.5574C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.217C>G MANE Select	ENSP00000373918.3:p.Gln73Glu
ENST00000444666.6:c.217C>G	ENSP00000415447.2:p.Gln73Glu
ENST00000454308.6:c.217C>G	ENSP00000392677.2:p.Gln73Glu
ENST00000470392.2:n.307C>G
ENST00000478124.6:n.280C>G
ENST00000485784.2:n.296C>G
ENST00000674616.1:c.217C>G	ENSP00000502408.1:p.Gln73Glu
ENST00000674643.1:c.217C>G	ENSP00000501636.1:p.Gln73Glu
ENST00000674737.1:c.217C>G	ENSP00000502464.1:p.Gln73Glu
ENST00000674807.1:c.217C>G	ENSP00000502814.1:p.Gln73Glu
ENST00000674815.1:c.-148+186C>G	ENSP00000502799.1:n.-148+186C>G
ENST00000674851.1:c.-153C>G	ENSP00000502451.1:n.-153C>G
ENST00000674969.1:n.257C>G
ENST00000675051.1:c.22-3658C>G	ENSP00000502296.1:n.22-3658C>G
ENST00000675529.1:c.217C>G	ENSP00000501655.1:p.Gln73Glu
ENST00000675587.1:n.233C>G
ENST00000675651.1:c.217C>G	ENSP00000502513.1:p.Gln73Glu
ENST00000675693.1:c.49C>G	ENSP00000502174.1:p.Gln17Glu
ENST00000675810.1:c.217C>G	ENSP00000502743.1:p.Gln73Glu
ENST00000675859.1:c.217C>G	ENSP00000502033.1:p.Gln73Glu
ENST00000675863.1:n.225C>G
ENST00000675886.1:n.245C>G
ENST00000676088.1:c.217C>G	ENSP00000501884.1:p.Gln73Glu
ENST00000676140.1:c.217C>G	ENSP00000502571.1:p.Gln73Glu
ENST00000676164.1:c.217C>G	ENSP00000501986.1:p.Gln73Glu
ENST00000676210.1:c.217C>G	ENSP00000502373.1:p.Gln73Glu
ENST00000676259.1:c.217C>G	ENSP00000501980.1:p.Gln73Glu
ENST00000676403.1:c.217C>G	ENSP00000502681.1:p.Gln73Glu
ENST00000389266.7:c.217C>G	ENSP00000373918.3:p.Gln73Glu
ENST00000454308.5:c.217C>G	ENSP00000392677.1:p.Gln73Glu
ENST00000478124.5:n.255C>G
ENST00000627489.1:c.217C>G	ENSP00000485931.1:p.Gln73Glu
NM_001316772.1:c.55C>G	NP_001303701.1:p.Gln19Glu
NM_002047.2:c.217C>G , LRG_243t1:c.217C>G	NP_002038.2:p.Gln73Glu
NM_002047.3:c.217C>G	NP_002038.2:p.Gln73Glu
XM_006715686.2:c.-263C>G	XP_006715749.1:n.-263C>G
NM_002047.4:c.217C>G MANE Select	NP_002038.2:p.Gln73Glu