Canonical Allele Identifier: CA658653782

Gene: GARS1

Linked Data

• ClinVar Variation Id: 441078
• ClinVar RCV Id: RCV000509170
• dbSNP Id: rs903029869
• MyVariant Identifiers: chr7:g.30634493C>G (hg19) ; chr7:g.30594877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594877C>G , CM000669.2:g.30594877C>G	GRCh38
NC_000007.13:g.30634493C>G , CM000669.1:g.30634493C>G	GRCh37
NC_000007.12:g.30601018C>G	NCBI36
NG_007942.1:g.5313C>G , LRG_243:g.5313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454308.6:c.-45C>G	ENSP00000392677.2:n.-45C>G
ENST00000470392.2:n.46C>G
ENST00000478124.6:n.19C>G
ENST00000485784.2:n.35C>G
ENST00000674643.1:c.-45C>G	ENSP00000501636.1:n.-45C>G
ENST00000674807.1:c.-45C>G	ENSP00000502814.1:n.-45C>G
ENST00000674815.1:c.-223C>G	ENSP00000502799.1:n.-223C>G
ENST00000675051.1:c.22-3919C>G	ENSP00000502296.1:n.22-3919C>G
ENST00000675529.1:c.-45C>G	ENSP00000501655.1:n.-45C>G
ENST00000675810.1:c.-45C>G	ENSP00000502743.1:n.-45C>G
ENST00000676088.1:c.-45C>G	ENSP00000501884.1:n.-45C>G
ENST00000676210.1:c.-45C>G	ENSP00000502373.1:n.-45C>G
ENST00000676403.1:c.-45C>G	ENSP00000502681.1:n.-45C>G
ENST00000389266.7:c.-45C>G	ENSP00000373918.3:n.-45C>G
ENST00000454308.5:c.-45C>G	ENSP00000392677.1:n.-45C>G
ENST00000627489.1:c.-45C>G	ENSP00000485931.1:n.-45C>G
NM_001316772.1:c.-207C>G	NP_001303701.1:n.-207C>G
NM_002047.2:c.-45C>G , LRG_243t1:c.-45C>G	NP_002038.2:n.-45C>G
XM_006715686.2:c.-524C>G	XP_006715749.1:n.-524C>G