Canonical Allele Identifier: CA355381361
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135553C>G , CM000665.2:g.184135553C>G GRCh38
NC_000003.11:g.183853341C>G , CM000665.1:g.183853341C>G GRCh37
NC_000003.10:g.185336035C>G NCBI36
NG_015826.1:g.5532C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432569.2:c.168C>G ENSP00000414775.1:p.Phe56Leu
ENST00000465218.3:n.191C>G
ENST00000468748.7:n.151C>G
ENST00000471832.2:c.168C>G ENSP00000497786.1:p.Phe56Leu
ENST00000491008.6:n.33C>G
ENST00000492226.2:n.165C>G
ENST00000647636.1:c.168C>G ENSP00000497505.1:p.Phe56Leu
ENST00000647909.1:c.168C>G ENSP00000498164.1:p.Phe56Leu
ENST00000648256.1:c.117C>G ENSP00000497356.1:p.Phe39Leu
ENST00000648314.1:c.168C>G ENSP00000496920.1:p.Phe56Leu
ENST00000648599.1:c.168C>G ENSP00000497159.1:p.Phe56Leu
ENST00000648630.1:c.162C>G ENSP00000497887.1:p.Phe54Leu
ENST00000648682.1:c.168C>G ENSP00000498185.1:p.Phe56Leu
ENST00000648882.1:c.168C>G ENSP00000497603.1:p.Phe56Leu
ENST00000648890.1:c.168C>G ENSP00000497503.1:p.Phe56Leu
ENST00000648915.2:c.168C>G MANE Select ENSP00000497160.1:p.Phe56Leu
ENST00000649688.1:c.168C>G ENSP00000497097.1:p.Phe56Leu
ENST00000649814.1:n.217C>G
ENST00000650244.1:c.60C>G ENSP00000497227.1:p.Phe20Leu
ENST00000650270.1:c.35C>G
ENST00000273783.7:c.168C>G ENSP00000273783.3:p.Phe56Leu
ENST00000432569.1:c.168C>G ENSP00000414775.1:p.Phe56Leu
ENST00000432982.5:c.154C>G
ENST00000444495.1:c.168C>G ENSP00000409142.1:p.Phe56Leu
ENST00000481054.5:n.169C>G
ENST00000491144.5:n.516C>G
NM_003907.2:c.168C>G NP_003898.2:p.Phe56Leu
XR_924208.1:n.1119C>G
NM_003907.3:c.168C>G MANE Select NP_003898.2:p.Phe56Leu
XM_011513266.3:c.-734C>G XP_011511568.1:n.-734C>G
XR_001740352.2:n.531C>G
XR_001740353.2:n.531C>G
XR_924208.2:n.531C>G