Canonical Allele Identifier: CA697349706
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs1305929455
gnomAD v3: 13-31872609-T-C
gnomAD v4: 13-31872609-T-C
MyVariant Identifiers: chr13:g.32446746T>C (hg19) chr13:g.31872609T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872609T>C , CM000675.2:g.31872609T>C GRCh38
NC_000013.10:g.32446746T>C , CM000675.1:g.32446746T>C GRCh37
NC_000013.9:g.31344746T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645780.1:c.-254+25670T>C (FRY) ENSP00000494080.1:n.-254+25670T>C
ENST00000428783.1:n.99+25670T>C (EEF1DP3)
NR_027062.1:n.157+25670T>C (EEF1DP3)
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