Canonical Allele Identifier: CA954670257
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs1868416822
gnomAD v3: 13-31872751-C-A
gnomAD v4: 13-31872751-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872751C>A , CM000675.2:g.31872751C>A GRCh38
NC_000013.10:g.32446888C>A , CM000675.1:g.32446888C>A GRCh37
NC_000013.9:g.31344888C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645780.1:c.-254+25812C>A (FRY) ENSP00000494080.1:n.-254+25812C>A
ENST00000428783.1:n.99+25812C>A (EEF1DP3)
NR_027062.1:n.157+25812C>A (EEF1DP3)
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