Canonical Allele Identifier: CA548793928
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs1235530414

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184138104T>A , CM000665.2:g.184138104T>A GRCh38
NC_000003.11:g.183855892T>A , CM000665.1:g.183855892T>A GRCh37
NC_000003.10:g.185338586T>A NCBI36
NG_015826.1:g.8083T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.707+29T>A
ENST00000468748.7:n.667+29T>A
ENST00000484154.2:n.1305+29T>A
ENST00000491008.6:n.1432+29T>A
ENST00000492226.2:n.681+29T>A
ENST00000492773.6:c.416+29T>A
ENST00000647636.1:c.684+29T>A ENSP00000497505.1:n.684+29T>A
ENST00000647909.1:c.708+29T>A ENSP00000498164.1:n.708+29T>A
ENST00000648145.1:c.452+29T>A
ENST00000648189.1:c.434+29T>A
ENST00000648256.1:c.633+29T>A ENSP00000497356.1:n.633+29T>A
ENST00000648314.1:c.684+29T>A ENSP00000496920.1:n.684+29T>A
ENST00000648599.1:c.684+29T>A ENSP00000497159.1:n.684+29T>A
ENST00000648630.1:c.678+29T>A ENSP00000497887.1:n.678+29T>A
ENST00000648682.1:c.684+29T>A ENSP00000498185.1:n.684+29T>A
ENST00000648882.1:c.*510+29T>A ENSP00000497603.1:n.*510+29T>A
ENST00000648890.1:c.684+29T>A ENSP00000497503.1:n.684+29T>A
ENST00000648915.2:c.684+29T>A MANE Select ENSP00000497160.1:n.684+29T>A
ENST00000649545.1:c.418+29T>A
ENST00000649688.1:c.684+29T>A ENSP00000497097.1:n.684+29T>A
ENST00000649814.1:n.733+29T>A
ENST00000650270.1:c.551+29T>A
ENST00000273783.7:c.684+29T>A ENSP00000273783.3:n.684+29T>A
ENST00000432982.5:c.245+1429T>A
ENST00000444495.1:c.684+29T>A ENSP00000409142.1:n.684+29T>A
ENST00000468748.5:n.137+29T>A
ENST00000481054.5:n.685+29T>A
ENST00000491008.5:n.648+29T>A
ENST00000491144.5:n.1124+29T>A
NM_003907.2:c.684+29T>A NP_003898.2:n.684+29T>A
XR_924208.1:n.1635+29T>A
NM_003907.3:c.684+29T>A MANE Select NP_003898.2:n.684+29T>A
XM_011513266.3:c.-218+29T>A XP_011511568.1:n.-218+29T>A
XR_001740352.2:n.1047+29T>A
XR_001740353.2:n.1047+29T>A
XR_924208.2:n.1047+29T>A