Canonical Allele Identifier: CA548794238
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs946852537
gnomAD v2: 3-183853138-G-A
gnomAD v4: 3-184135350-G-A
MyVariant Identifiers: chr3:g.183853138G>A (hg19) chr3:g.184135350G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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