Canonical Allele Identifier: CA2682248314
Gene: GARS1 HGNC NCBI

Linked Data

gnomAD v4: 7-30594679-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594679G>A , CM000669.2:g.30594679G>A GRCh38
NC_000007.13:g.30634295G>A , CM000669.1:g.30634295G>A GRCh37
NC_000007.12:g.30600820G>A NCBI36
NG_007942.1:g.5115G>A , LRG_243:g.5115G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000675051.1:c.22-4117G>A ENSP00000502296.1:n.22-4117G>A
NM_002047.2:c.-243G>A , LRG_243t1:c.-243G>A NP_002038.2:n.-243G>A
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