Canonical Allele Identifier: CA749691378
Gene: GATD3 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44195858G>T
gnomAD v3:
21:44195858 G / T
gnomAD v4:
chr21-44195858-G-T
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000803 (NFE)
dbSNP:
7282490
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44195858G>T , CM000683.2:g.44195858G>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000644251.1:c.429-6192G>T ENSP00000495305.1:n.429-6192G>T
ENST00000645487.1:c.*202-1313G>T ENSP00000494347.1:n.*202-1313G>T
ENST00000646873.1:c.313-12055G>T
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