Canonical Allele Identifier: CA247943114
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs967370148
gnomAD v2: 13-32447007-A-G
gnomAD v3: 13-31872870-A-G
gnomAD v4: 13-31872870-A-G
MyVariant Identifiers: chr13:g.32447007A>G (hg19) chr13:g.31872870A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872870A>G , CM000675.2:g.31872870A>G GRCh38
NC_000013.10:g.32447007A>G , CM000675.1:g.32447007A>G GRCh37
NC_000013.9:g.31345007A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645780.1:c.-254+25931A>G (FRY) ENSP00000494080.1:n.-254+25931A>G
ENST00000428783.1:n.99+25931A>G (EEF1DP3)
NR_027062.1:n.157+25931A>G (EEF1DP3)
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