Canonical Allele Identifier: CA355382179
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137926T>A , CM000665.2:g.184137926T>A GRCh38
NC_000003.11:g.183855714T>A , CM000665.1:g.183855714T>A GRCh37
NC_000003.10:g.185338408T>A NCBI36
NG_015826.1:g.7905T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.558T>A
ENST00000468748.7:n.518T>A
ENST00000484154.2:n.1156T>A
ENST00000491008.6:n.1283T>A
ENST00000492226.2:n.532T>A
ENST00000492773.6:c.267T>A
ENST00000647636.1:c.535T>A ENSP00000497505.1:p.Ser179Thr
ENST00000647909.1:c.559T>A ENSP00000498164.1:p.Ser187Thr
ENST00000648145.1:c.303T>A
ENST00000648189.1:c.285T>A
ENST00000648256.1:c.484T>A ENSP00000497356.1:p.Ser162Thr
ENST00000648314.1:c.535T>A ENSP00000496920.1:p.Ser179Thr
ENST00000648599.1:c.535T>A ENSP00000497159.1:p.Ser179Thr
ENST00000648630.1:c.529T>A ENSP00000497887.1:p.Ser177Thr
ENST00000648682.1:c.535T>A ENSP00000498185.1:p.Ser179Thr
ENST00000648882.1:c.*361T>A ENSP00000497603.1:n.*361T>A
ENST00000648890.1:c.535T>A ENSP00000497503.1:p.Ser179Thr
ENST00000648915.2:c.535T>A MANE Select ENSP00000497160.1:p.Ser179Thr
ENST00000649545.1:c.269T>A
ENST00000649688.1:c.535T>A ENSP00000497097.1:p.Ser179Thr
ENST00000649814.1:n.584T>A
ENST00000650244.1:c.680T>A ENSP00000497227.1:n.680T>A
ENST00000650270.1:c.402T>A
ENST00000273783.7:c.535T>A ENSP00000273783.3:p.Ser179Thr
ENST00000432982.5:c.245+1251T>A
ENST00000444495.1:c.535T>A ENSP00000409142.1:p.Ser179Thr
ENST00000481054.5:n.536T>A
ENST00000491008.5:n.499T>A
ENST00000491144.5:n.975T>A
ENST00000498831.1:n.490T>A
NM_003907.2:c.535T>A NP_003898.2:p.Ser179Thr
XR_924208.1:n.1486T>A
NM_003907.3:c.535T>A MANE Select NP_003898.2:p.Ser179Thr
XM_011513266.3:c.-367T>A XP_011511568.1:n.-367T>A
XR_001740352.2:n.898T>A
XR_001740353.2:n.898T>A
XR_924208.2:n.898T>A