Canonical Allele Identifier: CA1099842437
Gene: GARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1791195597
gnomAD v3: 7-30594678-T-G
gnomAD v4: 7-30594678-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594678T>G , CM000669.2:g.30594678T>G GRCh38
NC_000007.13:g.30634294T>G , CM000669.1:g.30634294T>G GRCh37
NC_000007.12:g.30600819T>G NCBI36
NG_007942.1:g.5114T>G , LRG_243:g.5114T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675051.1:c.22-4118T>G ENSP00000502296.1:n.22-4118T>G
NM_002047.2:c.-244T>G , LRG_243t1:c.-244T>G NP_002038.2:n.-244T>G
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