ClinGen Allele Registry
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Canonical Allele Identifier:
CA11389428
Gene: EIF2B5-DT
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr3:g.184125347A>G
GRCh37
chr3:g.183843135A>G
Linked Data - Sequence & Population
gnomAD v2:
3:183843135 A / G
gnomAD v3:
3:184125347 A / G
gnomAD v4:
chr3-184125347-A-G
Joint Max Group AF
0.6775341 (AFR)
Genomes Max Group AF
0.6775341 (AFR)
Linked Data - NCBI & NCI
dbSNP:
6806377
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.184125347A>G , CM000665.2:g.184125347A>G
GRCh38
NC_000003.11:g.183843135A>G , CM000665.1:g.183843135A>G
GRCh37
NC_000003.10:g.185325829A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959683.1:n.670+9189T>C
Search 100 bp 5'
Search 100 bp 3'