Canonical Allele Identifier: CA837514178
Gene: GARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1198828583
gnomAD v3: 7-30594688-T-C
gnomAD v4: 7-30594688-T-C
MyVariant Identifiers: chr7:g.30634304T>C (hg19) chr7:g.30594688T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594688T>C , CM000669.2:g.30594688T>C GRCh38
NC_000007.13:g.30634304T>C , CM000669.1:g.30634304T>C GRCh37
NC_000007.12:g.30600829T>C NCBI36
NG_007942.1:g.5124T>C , LRG_243:g.5124T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675051.1:c.22-4108T>C ENSP00000502296.1:n.22-4108T>C
ENST00000389266.7:c.-234T>C ENSP00000373918.3:n.-234T>C
NM_002047.2:c.-234T>C , LRG_243t1:c.-234T>C NP_002038.2:n.-234T>C
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