Canonical Allele Identifier: CA2668795802
Gene: EIF2B5 HGNC NCBI

Linked Data

gnomAD v4: 3-184135355-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135355C>A , CM000665.2:g.184135355C>A GRCh38
NC_000003.11:g.183853143C>A , CM000665.1:g.183853143C>A GRCh37
NC_000003.10:g.185335837C>A NCBI36
NG_015826.1:g.5334C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000471832.2:c.-31C>A ENSP00000497786.1:n.-31C>A
ENST00000649814.1:n.19C>A
ENST00000273783.7:c.-31C>A ENSP00000273783.3:n.-31C>A
ENST00000491144.5:n.318C>A
NM_003907.2:c.-31C>A NP_003898.2:n.-31C>A
XR_924208.1:n.921C>A
XR_001740352.2:n.333C>A
XR_001740353.2:n.333C>A
XR_924208.2:n.333C>A
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