Canonical Allele Identifier: CA355381378
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135561T>G , CM000665.2:g.184135561T>G GRCh38
NC_000003.11:g.183853349T>G , CM000665.1:g.183853349T>G GRCh37
NC_000003.10:g.185336043T>G NCBI36
NG_015826.1:g.5540T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432569.2:c.176T>G ENSP00000414775.1:p.Ile59Ser
ENST00000465218.3:n.199T>G
ENST00000468748.7:n.159T>G
ENST00000471832.2:c.176T>G ENSP00000497786.1:p.Ile59Ser
ENST00000491008.6:n.41T>G
ENST00000492226.2:n.173T>G
ENST00000647636.1:c.176T>G ENSP00000497505.1:p.Ile59Ser
ENST00000647909.1:c.176T>G ENSP00000498164.1:p.Ile59Ser
ENST00000648256.1:c.125T>G ENSP00000497356.1:p.Ile42Ser
ENST00000648314.1:c.176T>G ENSP00000496920.1:p.Ile59Ser
ENST00000648599.1:c.176T>G ENSP00000497159.1:p.Ile59Ser
ENST00000648630.1:c.170T>G ENSP00000497887.1:p.Ile57Ser
ENST00000648682.1:c.176T>G ENSP00000498185.1:p.Ile59Ser
ENST00000648882.1:c.176T>G ENSP00000497603.1:p.Ile59Ser
ENST00000648890.1:c.176T>G ENSP00000497503.1:p.Ile59Ser
ENST00000648915.2:c.176T>G MANE Select ENSP00000497160.1:p.Ile59Ser
ENST00000649688.1:c.176T>G ENSP00000497097.1:p.Ile59Ser
ENST00000649814.1:n.225T>G
ENST00000650244.1:c.68T>G ENSP00000497227.1:p.Ile23Ser
ENST00000650270.1:c.43T>G
ENST00000273783.7:c.176T>G ENSP00000273783.3:p.Ile59Ser
ENST00000432569.1:c.176T>G ENSP00000414775.1:p.Ile59Ser
ENST00000432982.5:c.162T>G
ENST00000444495.1:c.176T>G ENSP00000409142.1:p.Ile59Ser
ENST00000481054.5:n.177T>G
ENST00000491144.5:n.524T>G
NM_003907.2:c.176T>G NP_003898.2:p.Ile59Ser
XR_924208.1:n.1127T>G
NM_003907.3:c.176T>G MANE Select NP_003898.2:p.Ile59Ser
XM_011513266.3:c.-726T>G XP_011511568.1:n.-726T>G
XR_001740352.2:n.539T>G
XR_001740353.2:n.539T>G
XR_924208.2:n.539T>G