Canonical Allele Identifier: CA2668795766
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs2109005438
gnomAD v4: 3-184135333-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135333T>C , CM000665.2:g.184135333T>C GRCh38
NC_000003.11:g.183853121T>C , CM000665.1:g.183853121T>C GRCh37
NC_000003.10:g.185335815T>C NCBI36
NG_015826.1:g.5312T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000273783.7:c.-53T>C ENSP00000273783.3:n.-53T>C
ENST00000491144.5:n.296T>C
NM_003907.2:c.-53T>C NP_003898.2:n.-53T>C
XR_924208.1:n.899T>C
XR_001740352.2:n.311T>C
XR_001740353.2:n.311T>C
XR_924208.2:n.311T>C
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