Canonical Allele Identifier: CA437323893
Gene: EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.183858322T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140534T>A , CM000665.2:g.184140534T>A GRCh38
NC_000003.11:g.183858322T>A , CM000665.1:g.183858322T>A GRCh37
NC_000003.10:g.185341016T>A NCBI36
NG_015826.1:g.10513T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.983T>A
ENST00000468748.7:n.1203T>A
ENST00000484154.2:n.1387-1391T>A
ENST00000491008.6:n.1708T>A
ENST00000492226.2:n.1217T>A
ENST00000492773.6:c.714T>A
ENST00000647636.1:c.960T>A ENSP00000497505.1:p.Pro320=
ENST00000647909.1:c.984T>A ENSP00000498164.1:p.Pro328=
ENST00000648145.1:c.728T>A
ENST00000648189.1:c.774T>A
ENST00000648256.1:c.932T>A ENSP00000497356.1:n.932T>A
ENST00000648314.1:c.*79T>A ENSP00000496920.1:n.*79T>A
ENST00000648599.1:c.*243T>A ENSP00000497159.1:n.*243T>A
ENST00000648630.1:c.954T>A ENSP00000497887.1:p.Pro318=
ENST00000648682.1:c.960T>A ENSP00000498185.1:p.Pro320=
ENST00000648882.1:c.*786T>A ENSP00000497603.1:n.*786T>A
ENST00000648890.1:c.960T>A ENSP00000497503.1:p.Pro320=
ENST00000648915.2:c.960T>A MANE Select ENSP00000497160.1:p.Pro320=
ENST00000649545.1:c.577+377T>A
ENST00000649688.1:c.*243T>A ENSP00000497097.1:n.*243T>A
ENST00000649814.1:n.1009T>A
ENST00000650270.1:c.827T>A
ENST00000273783.7:c.960T>A ENSP00000273783.3:p.Pro320=
ENST00000432982.5:c.246-1703T>A
ENST00000444495.1:c.960T>A ENSP00000409142.1:p.Pro320=
ENST00000468748.5:n.673T>A
ENST00000479833.1:n.276T>A
ENST00000481054.5:n.1054T>A
ENST00000491144.5:n.1464T>A
ENST00000493740.1:n.190T>A
NM_003907.2:c.960T>A NP_003898.2:p.Pro320=
XM_011513265.1:c.210T>A XP_011511567.1:p.Pro70=
XM_011513266.1:c.123T>A XP_011511568.1:p.Pro41=
XR_924208.1:n.1911T>A
NM_003907.3:c.960T>A MANE Select NP_003898.2:p.Pro320=
XM_011513266.3:c.123T>A XP_011511568.1:p.Pro41=
XR_001740352.2:n.1323T>A
XR_001740353.2:n.1323T>A
XR_924208.2:n.1323T>A