Canonical Allele Identifier: CA355381140
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135443A>C , CM000665.2:g.184135443A>C GRCh38
NC_000003.11:g.183853231A>C , CM000665.1:g.183853231A>C GRCh37
NC_000003.10:g.185335925A>C NCBI36
NG_015826.1:g.5422A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432569.2:c.58A>C ENSP00000414775.1:p.Ser20Arg
ENST00000465218.3:n.81A>C
ENST00000468748.7:n.41A>C
ENST00000471832.2:c.58A>C ENSP00000497786.1:p.Ser20Arg
ENST00000492226.2:n.55A>C
ENST00000647636.1:c.58A>C ENSP00000497505.1:p.Ser20Arg
ENST00000647909.1:c.58A>C ENSP00000498164.1:p.Ser20Arg
ENST00000648256.1:c.7A>C ENSP00000497356.1:p.Ser3Arg
ENST00000648314.1:c.58A>C ENSP00000496920.1:p.Ser20Arg
ENST00000648599.1:c.58A>C ENSP00000497159.1:p.Ser20Arg
ENST00000648630.1:c.52A>C ENSP00000497887.1:p.Ser18Arg
ENST00000648682.1:c.58A>C ENSP00000498185.1:p.Ser20Arg
ENST00000648882.1:c.58A>C ENSP00000497603.1:p.Ser20Arg
ENST00000648890.1:c.58A>C ENSP00000497503.1:p.Ser20Arg
ENST00000648915.2:c.58A>C MANE Select ENSP00000497160.1:p.Ser20Arg
ENST00000649688.1:c.58A>C ENSP00000497097.1:p.Ser20Arg
ENST00000649814.1:n.107A>C
ENST00000273783.7:c.58A>C ENSP00000273783.3:p.Ser20Arg
ENST00000432569.1:c.58A>C ENSP00000414775.1:p.Ser20Arg
ENST00000432982.5:c.44A>C
ENST00000444495.1:c.58A>C ENSP00000409142.1:p.Ser20Arg
ENST00000481054.5:n.59A>C
ENST00000491144.5:n.406A>C
NM_003907.2:c.58A>C NP_003898.2:p.Ser20Arg
XR_924208.1:n.1009A>C
NM_003907.3:c.58A>C MANE Select NP_003898.2:p.Ser20Arg
XM_011513266.3:c.-844A>C XP_011511568.1:n.-844A>C
XR_001740352.2:n.421A>C
XR_001740353.2:n.421A>C
XR_924208.2:n.421A>C