Canonical Allele Identifier: CA10629064

Gene: GARS1

Linked Data

• ClinVar Variation Id: 359990
• ClinVar RCV Id: RCV000297344 ; RCV000356830 ; RCV000393393 ; RCV000836041
• dbSNP Id: rs116125961
• gnomAD v2: 7-30634221-G-A
• gnomAD v3: 7-30594605-G-A
• gnomAD v4: 7-30594605-G-A
• MyVariant Identifiers: chr7:g.30634221G>A (hg19) ; chr7:g.30594605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594605G>A , CM000669.2:g.30594605G>A	GRCh38
NC_000007.13:g.30634221G>A , CM000669.1:g.30634221G>A	GRCh37
NC_000007.12:g.30600746G>A	NCBI36
NG_007942.1:g.5041G>A , LRG_243:g.5041G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675051.1:c.22-4191G>A	ENSP00000502296.1:n.22-4191G>A
NM_002047.2:c.-317G>A , LRG_243t1:c.-317G>A	NP_002038.2:n.-317G>A