Canonical Allele Identifier: CA1425882321
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs1713416698

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137564G>A , CM000665.2:g.184137564G>A GRCh38
NC_000003.11:g.183855352G>A , CM000665.1:g.183855352G>A GRCh37
NC_000003.10:g.185338046G>A NCBI36
NG_015826.1:g.7543G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465218.3:n.344-56G>A
ENST00000468748.7:n.304-56G>A
ENST00000484154.2:n.886G>A
ENST00000491008.6:n.1013G>A
ENST00000492226.2:n.318-56G>A
ENST00000492773.6:c.53-56G>A
ENST00000647636.1:c.321-56G>A ENSP00000497505.1:n.321-56G>A
ENST00000647909.1:c.321-56G>A ENSP00000498164.1:n.321-56G>A
ENST00000648145.1:c.89-56G>A
ENST00000648189.1:c.71-56G>A
ENST00000648256.1:c.270-56G>A ENSP00000497356.1:n.270-56G>A
ENST00000648314.1:c.321-56G>A ENSP00000496920.1:n.321-56G>A
ENST00000648599.1:c.321-56G>A ENSP00000497159.1:n.321-56G>A
ENST00000648630.1:c.315-56G>A ENSP00000497887.1:n.315-56G>A
ENST00000648682.1:c.321-56G>A ENSP00000498185.1:n.321-56G>A
ENST00000648882.1:c.*147-56G>A ENSP00000497603.1:n.*147-56G>A
ENST00000648890.1:c.321-56G>A ENSP00000497503.1:n.321-56G>A
ENST00000648915.2:c.321-56G>A MANE Select ENSP00000497160.1:n.321-56G>A
ENST00000649545.1:c.55-56G>A
ENST00000649688.1:c.321-56G>A ENSP00000497097.1:n.321-56G>A
ENST00000649814.1:n.370-56G>A
ENST00000650244.1:c.466-56G>A ENSP00000497227.1:n.466-56G>A
ENST00000650270.1:c.188-56G>A
ENST00000273783.7:c.321-56G>A ENSP00000273783.3:n.321-56G>A
ENST00000432982.5:c.245+889G>A
ENST00000444495.1:c.321-56G>A ENSP00000409142.1:n.321-56G>A
ENST00000481054.5:n.322-56G>A
ENST00000491008.5:n.229G>A
ENST00000491144.5:n.669-56G>A
ENST00000498831.1:n.275+34G>A
NM_003907.2:c.321-56G>A NP_003898.2:n.321-56G>A
XR_924208.1:n.1272-56G>A
NM_003907.3:c.321-56G>A MANE Select NP_003898.2:n.321-56G>A
XM_011513266.3:c.-581-56G>A XP_011511568.1:n.-581-56G>A
XR_001740352.2:n.684-56G>A
XR_001740353.2:n.684-56G>A
XR_924208.2:n.684-56G>A