Canonical Allele Identifier: CA437323510
Gene: EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.183855716T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137928T>C , CM000665.2:g.184137928T>C GRCh38
NC_000003.11:g.183855716T>C , CM000665.1:g.183855716T>C GRCh37
NC_000003.10:g.185338410T>C NCBI36
NG_015826.1:g.7907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.560T>C
ENST00000468748.7:n.520T>C
ENST00000484154.2:n.1158T>C
ENST00000491008.6:n.1285T>C
ENST00000492226.2:n.534T>C
ENST00000492773.6:c.269T>C
ENST00000647636.1:c.537T>C ENSP00000497505.1:p.Ser179=
ENST00000647909.1:c.561T>C ENSP00000498164.1:p.Ser187=
ENST00000648145.1:c.305T>C
ENST00000648189.1:c.287T>C
ENST00000648256.1:c.486T>C ENSP00000497356.1:p.Ser162=
ENST00000648314.1:c.537T>C ENSP00000496920.1:p.Ser179=
ENST00000648599.1:c.537T>C ENSP00000497159.1:p.Ser179=
ENST00000648630.1:c.531T>C ENSP00000497887.1:p.Ser177=
ENST00000648682.1:c.537T>C ENSP00000498185.1:p.Ser179=
ENST00000648882.1:c.*363T>C ENSP00000497603.1:n.*363T>C
ENST00000648890.1:c.537T>C ENSP00000497503.1:p.Ser179=
ENST00000648915.2:c.537T>C MANE Select ENSP00000497160.1:p.Ser179=
ENST00000649545.1:c.271T>C
ENST00000649688.1:c.537T>C ENSP00000497097.1:p.Ser179=
ENST00000649814.1:n.586T>C
ENST00000650244.1:c.682T>C ENSP00000497227.1:n.682T>C
ENST00000650270.1:c.404T>C
ENST00000273783.7:c.537T>C ENSP00000273783.3:p.Ser179=
ENST00000432982.5:c.245+1253T>C
ENST00000444495.1:c.537T>C ENSP00000409142.1:p.Ser179=
ENST00000481054.5:n.538T>C
ENST00000491008.5:n.501T>C
ENST00000491144.5:n.977T>C
ENST00000498831.1:n.492T>C
NM_003907.2:c.537T>C NP_003898.2:p.Ser179=
XR_924208.1:n.1488T>C
NM_003907.3:c.537T>C MANE Select NP_003898.2:p.Ser179=
XM_011513266.3:c.-365T>C XP_011511568.1:n.-365T>C
XR_001740352.2:n.900T>C
XR_001740353.2:n.900T>C
XR_924208.2:n.900T>C