Canonical Allele Identifier: CA609359584
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs1295834648
gnomAD v2: 13-32446845-A-G
gnomAD v3: 13-31872708-A-G
gnomAD v4: 13-31872708-A-G
MyVariant Identifiers: chr13:g.32446845A>G (hg19) chr13:g.31872708A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872708A>G , CM000675.2:g.31872708A>G GRCh38
NC_000013.10:g.32446845A>G , CM000675.1:g.32446845A>G GRCh37
NC_000013.9:g.31344845A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645780.1:c.-254+25769A>G (FRY) ENSP00000494080.1:n.-254+25769A>G
ENST00000428783.1:n.99+25769A>G (EEF1DP3)
NR_027062.1:n.157+25769A>G (EEF1DP3)
Search 100 bp 5'
Search 100 bp 3'