Canonical Allele Identifier: CA321485299
Gene: GATD3 HGNC NCBI
dbSNP:
762421
gnomAD v3:
21:44195678 G / A
gnomAD v4:
chr21-44195678-G-A
Joint Max Group AF 0.00242297 (AFR)
Genomes Max Group AF 0.00242297 (AFR)
MyVariant.info:
GRCh38 chr21:g.44195678G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44195678G>A , CM000683.2:g.44195678G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000644251.1:c.429-6372G>A ENSP00000495305.1:n.429-6372G>A
ENST00000645487.1:c.*202-1493G>A ENSP00000494347.1:n.*202-1493G>A
ENST00000646873.1:c.313-12235G>A
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