Canonical Allele Identifier: CA913812497
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs1566007890
gnomAD v2: 13-32446893-T-C
gnomAD v3: 13-31872756-T-C
gnomAD v4: 13-31872756-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872756T>C , CM000675.2:g.31872756T>C GRCh38
NC_000013.10:g.32446893T>C , CM000675.1:g.32446893T>C GRCh37
NC_000013.9:g.31344893T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645780.1:c.-254+25817T>C (FRY) ENSP00000494080.1:n.-254+25817T>C
ENST00000428783.1:n.99+25817T>C (EEF1DP3)
NR_027062.1:n.157+25817T>C (EEF1DP3)
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