Canonical Allele Identifier: CA837514159
Gene: GARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1246801093
gnomAD v4: 7-30594665-C-G
MyVariant Identifiers: chr7:g.30634281C>G (hg19) chr7:g.30594665C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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