Canonical Allele Identifier: CA10628955

Gene: GARS1

Linked Data

• ClinVar Variation Id: 359997
• ClinVar RCV Id: RCV000315375 ; RCV000351571 ; RCV000397425
• dbSNP Id: rs886062270
• gnomAD v2: 7-30634458-C-T
• gnomAD v3: 7-30594842-C-T
• gnomAD v4: 7-30594842-C-T
• MyVariant Identifiers: chr7:g.30634458C>T (hg19) ; chr7:g.30594842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594842C>T , CM000669.2:g.30594842C>T	GRCh38
NC_000007.13:g.30634458C>T , CM000669.1:g.30634458C>T	GRCh37
NC_000007.12:g.30600983C>T	NCBI36
NG_007942.1:g.5278C>T , LRG_243:g.5278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470392.2:n.11C>T
ENST00000674643.1:c.-80C>T	ENSP00000501636.1:n.-80C>T
ENST00000674807.1:c.-80C>T	ENSP00000502814.1:n.-80C>T
ENST00000675051.1:c.22-3954C>T	ENSP00000502296.1:n.22-3954C>T
ENST00000675529.1:c.-80C>T	ENSP00000501655.1:n.-80C>T
ENST00000675810.1:c.-80C>T	ENSP00000502743.1:n.-80C>T
ENST00000676088.1:c.-80C>T	ENSP00000501884.1:n.-80C>T
ENST00000389266.7:c.-80C>T	ENSP00000373918.3:n.-80C>T
ENST00000454308.5:c.-80C>T	ENSP00000392677.1:n.-80C>T
ENST00000627489.1:c.-80C>T	ENSP00000485931.1:n.-80C>T
NM_001316772.1:c.-242C>T	NP_001303701.1:n.-242C>T
NM_002047.2:c.-80C>T , LRG_243t1:c.-80C>T	NP_002038.2:n.-80C>T