Canonical Allele Identifier: CA2682248312
Gene: GARS1 HGNC NCBI

Linked Data

gnomAD v4: 7-30594676-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594676T>G , CM000669.2:g.30594676T>G GRCh38
NC_000007.13:g.30634292T>G , CM000669.1:g.30634292T>G GRCh37
NC_000007.12:g.30600817T>G NCBI36
NG_007942.1:g.5112T>G , LRG_243:g.5112T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675051.1:c.22-4120T>G ENSP00000502296.1:n.22-4120T>G
NM_002047.2:c.-246T>G , LRG_243t1:c.-246T>G NP_002038.2:n.-246T>G
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