Canonical Allele Identifier: CA355381689
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184136731T>A , CM000665.2:g.184136731T>A GRCh38
NC_000003.11:g.183854519T>A , CM000665.1:g.183854519T>A GRCh37
NC_000003.10:g.185337213T>A NCBI36
NG_015826.1:g.6710T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432569.2:c.315T>A ENSP00000414775.1:p.His105Gln
ENST00000465218.3:n.338T>A
ENST00000468748.7:n.298T>A
ENST00000471832.2:c.*309T>A ENSP00000497786.1:n.*309T>A
ENST00000484154.2:n.53T>A
ENST00000491008.6:n.180T>A
ENST00000492226.2:n.312T>A
ENST00000492773.6:c.47T>A
ENST00000647636.1:c.315T>A ENSP00000497505.1:p.His105Gln
ENST00000647909.1:c.315T>A ENSP00000498164.1:p.His105Gln
ENST00000648145.1:c.83T>A
ENST00000648189.1:c.65T>A
ENST00000648256.1:c.264T>A ENSP00000497356.1:p.His88Gln
ENST00000648314.1:c.315T>A ENSP00000496920.1:p.His105Gln
ENST00000648599.1:c.315T>A ENSP00000497159.1:p.His105Gln
ENST00000648630.1:c.309T>A ENSP00000497887.1:p.His103Gln
ENST00000648682.1:c.315T>A ENSP00000498185.1:p.His105Gln
ENST00000648882.1:c.*141T>A ENSP00000497603.1:n.*141T>A
ENST00000648890.1:c.315T>A ENSP00000497503.1:p.His105Gln
ENST00000648915.2:c.315T>A MANE Select ENSP00000497160.1:p.His105Gln
ENST00000649545.1:c.49T>A
ENST00000649688.1:c.315T>A ENSP00000497097.1:p.His105Gln
ENST00000649814.1:n.364T>A
ENST00000650244.1:c.460T>A ENSP00000497227.1:n.460T>A
ENST00000650270.1:c.182T>A
ENST00000273783.7:c.315T>A ENSP00000273783.3:p.His105Gln
ENST00000432569.1:c.315T>A ENSP00000414775.1:p.His105Gln
ENST00000432982.5:c.245+56T>A
ENST00000444495.1:c.315T>A ENSP00000409142.1:p.His105Gln
ENST00000471832.1:n.246T>A
ENST00000481054.5:n.316T>A
ENST00000491144.5:n.663T>A
ENST00000498831.1:n.171T>A
NM_003907.2:c.315T>A NP_003898.2:p.His105Gln
XR_924208.1:n.1266T>A
NM_003907.3:c.315T>A MANE Select NP_003898.2:p.His105Gln
XM_011513266.3:c.-587T>A XP_011511568.1:n.-587T>A
XR_001740352.2:n.678T>A
XR_001740353.2:n.678T>A
XR_924208.2:n.678T>A