Canonical Allele Identifier: CA11389428
Gene: EIF2B5-DT HGNC NCBI

Linked Data

dbSNP Id: rs6806377
gnomAD v2: 3-183843135-A-G
gnomAD v3: 3-184125347-A-G
gnomAD v4: 3-184125347-A-G
MyVariant Identifiers: chr3:g.183843135A>G (hg19) chr3:g.184125347A>G (hg38)
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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
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