Canonical Allele Identifier: CA2682248321

Gene: GARS1

Linked Data

• gnomAD v4: 7-30594684-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594684A>G , CM000669.2:g.30594684A>G	GRCh38
NC_000007.13:g.30634300A>G , CM000669.1:g.30634300A>G	GRCh37
NC_000007.12:g.30600825A>G	NCBI36
NG_007942.1:g.5120A>G , LRG_243:g.5120A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675051.1:c.22-4112A>G	ENSP00000502296.1:n.22-4112A>G
ENST00000389266.7:c.-238A>G	ENSP00000373918.3:n.-238A>G
NM_002047.2:c.-238A>G , LRG_243t1:c.-238A>G	NP_002038.2:n.-238A>G