Canonical Allele Identifier: CA247943103
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs893645239
gnomAD v3: 13-31872755-C-T
gnomAD v4: 13-31872755-C-T
MyVariant Identifiers: chr13:g.32446892C>T (hg19) chr13:g.31872755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872755C>T , CM000675.2:g.31872755C>T GRCh38
NC_000013.10:g.32446892C>T , CM000675.1:g.32446892C>T GRCh37
NC_000013.9:g.31344892C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645780.1:c.-254+25816C>T (FRY) ENSP00000494080.1:n.-254+25816C>T
ENST00000428783.1:n.99+25816C>T (EEF1DP3)
NR_027062.1:n.157+25816C>T (EEF1DP3)
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