Canonical Allele Identifier: CA247943116

Gene: FRY EEF1DP3

Linked Data

• dbSNP Id: rs940246971
• gnomAD v3: 13-31872879-C-G
• gnomAD v4: 13-31872879-C-G
• MyVariant Identifiers: chr13:g.32447016C>G (hg19) ; chr13:g.31872879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31872879C>G , CM000675.2:g.31872879C>G	GRCh38
NC_000013.10:g.32447016C>G , CM000675.1:g.32447016C>G	GRCh37
NC_000013.9:g.31345016C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645780.1:c.-254+25940C>G (FRY)	ENSP00000494080.1:n.-254+25940C>G
ENST00000428783.1:n.99+25940C>G (EEF1DP3)
NR_027062.1:n.157+25940C>G (EEF1DP3)