Canonical Allele Identifier: CA2682248317
Gene: GARS1 HGNC NCBI

Linked Data

gnomAD v4: 7-30594681-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594681G>A , CM000669.2:g.30594681G>A GRCh38
NC_000007.13:g.30634297G>A , CM000669.1:g.30634297G>A GRCh37
NC_000007.12:g.30600822G>A NCBI36
NG_007942.1:g.5117G>A , LRG_243:g.5117G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000675051.1:c.22-4115G>A ENSP00000502296.1:n.22-4115G>A
ENST00000389266.7:c.-241G>A ENSP00000373918.3:n.-241G>A
NM_002047.2:c.-241G>A , LRG_243t1:c.-241G>A NP_002038.2:n.-241G>A
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