Canonical Allele Identifier: CA247943104
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs1009396982
gnomAD v2: 13-32446912-A-T
gnomAD v3: 13-31872775-A-T
gnomAD v4: 13-31872775-A-T
MyVariant Identifiers: chr13:g.32446912A>T (hg19) chr13:g.31872775A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872775A>T , CM000675.2:g.31872775A>T GRCh38
NC_000013.10:g.32446912A>T , CM000675.1:g.32446912A>T GRCh37
NC_000013.9:g.31344912A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645780.1:c.-254+25836A>T (FRY) ENSP00000494080.1:n.-254+25836A>T
ENST00000428783.1:n.99+25836A>T (EEF1DP3)
NR_027062.1:n.157+25836A>T (EEF1DP3)
Search 100 bp 5'
Search 100 bp 3'