Canonical Allele Identifier: CA1425882892
Community Standard Title: NM_003907.3(EIF2B5):c.545C= (p.Thr182=)
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137936C= , CM000665.2:g.184137936C= GRCh38
NC_000003.11:g.183855724C= , CM000665.1:g.183855724C= GRCh37
NC_000003.10:g.185338418C= NCBI36
NG_015826.1:g.7915C=

Transcript Alleles

HGVS Amino-acid Change
NM_003907.3:c.545C= MANE Select NP_003898.2:p.Thr182=
ENST00000648915.2:c.545C= MANE Select ENSP00000497160.1:p.Thr182=
NM_003907.2:c.545C= NP_003898.2:p.Thr182=
ENST00000273783.7:c.545C= ENSP00000273783.3:p.Thr182=
ENST00000432982.5:c.245+1261C=
ENST00000444495.1:c.545C= ENSP00000409142.1:p.Thr182=
ENST00000465218.3:n.568C=
ENST00000468748.7:n.528C=
ENST00000481054.5:n.546C=
ENST00000484154.2:n.1166C=
ENST00000491008.5:n.509C=
ENST00000491008.6:n.1293C=
ENST00000491144.5:n.985C=
ENST00000492226.2:n.542C=
ENST00000492773.6:c.277C=
ENST00000498831.1:n.500C=
ENST00000647636.1:c.545C= ENSP00000497505.1:p.Thr182=
ENST00000647909.1:c.569C= ENSP00000498164.1:p.Thr190=
ENST00000648145.1:c.313C=
ENST00000648189.1:c.295C=
ENST00000648256.1:c.494C= ENSP00000497356.1:p.Thr165=
ENST00000648314.1:c.545C= ENSP00000496920.1:p.Thr182=
ENST00000648599.1:c.545C= ENSP00000497159.1:p.Thr182=
ENST00000648630.1:c.539C= ENSP00000497887.1:p.Thr180=
ENST00000648682.1:c.545C= ENSP00000498185.1:p.Thr182=
ENST00000648882.1:c.*371C= ENSP00000497603.1:n.*371C=
ENST00000648890.1:c.545C= ENSP00000497503.1:p.Thr182=
ENST00000649545.1:c.279C=
ENST00000649688.1:c.545C= ENSP00000497097.1:p.Thr182=
ENST00000649814.1:n.594C=
ENST00000650244.1:c.690C= ENSP00000497227.1:n.690C=
ENST00000650270.1:c.412C=
XM_011513266.3:c.-357C= XP_011511568.1:n.-357C=
XR_001740352.2:n.908C=
XR_001740353.2:n.908C=
XR_924208.1:n.1496C=
XR_924208.2:n.908C=