Canonical Allele Identifier: CA10628950

Gene: GARS1

Linked Data

• ClinVar Variation Id: 359994
• ClinVar RCV Id: RCV000264303 ; RCV000323967 ; RCV000378526 ; RCV000833952
• dbSNP Id: rs17159262
• gnomAD v2: 7-30634333-C-T
• gnomAD v3: 7-30594717-C-T
• gnomAD v4: 7-30594717-C-T
• MyVariant Identifiers: chr7:g.30634333C>T (hg19) ; chr7:g.30594717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594717C>T , CM000669.2:g.30594717C>T	GRCh38
NC_000007.13:g.30634333C>T , CM000669.1:g.30634333C>T	GRCh37
NC_000007.12:g.30600858C>T	NCBI36
NG_007942.1:g.5153C>T , LRG_243:g.5153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675051.1:c.22-4079C>T	ENSP00000502296.1:n.22-4079C>T
ENST00000389266.7:c.-205C>T	ENSP00000373918.3:n.-205C>T
NM_002047.2:c.-205C>T , LRG_243t1:c.-205C>T	NP_002038.2:n.-205C>T