Canonical Allele Identifier: CA88839959
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs946852537
MyVariant Identifiers: chr3:g.184135350G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135350G>C , CM000665.2:g.184135350G>C GRCh38
NC_000003.11:g.183853138G>C , CM000665.1:g.183853138G>C GRCh37
NC_000003.10:g.185335832G>C NCBI36
NG_015826.1:g.5329G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649814.1:n.14G>C
ENST00000273783.7:c.-36G>C ENSP00000273783.3:n.-36G>C
ENST00000491144.5:n.313G>C
NM_003907.2:c.-36G>C NP_003898.2:n.-36G>C
XR_924208.1:n.916G>C
XR_001740352.2:n.328G>C
XR_001740353.2:n.328G>C
XR_924208.2:n.328G>C
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