Canonical Allele Identifier: CA1099842435
Gene: GARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1246801093
gnomAD v3: 7-30594665-C-A
gnomAD v4: 7-30594665-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594665C>A , CM000669.2:g.30594665C>A GRCh38
NC_000007.13:g.30634281C>A , CM000669.1:g.30634281C>A GRCh37
NC_000007.12:g.30600806C>A NCBI36
NG_007942.1:g.5101C>A , LRG_243:g.5101C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000675051.1:c.22-4131C>A ENSP00000502296.1:n.22-4131C>A
NM_002047.2:c.-257C>A , LRG_243t1:c.-257C>A NP_002038.2:n.-257C>A
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