Canonical Allele Identifier: CA437323463
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs1577029964
MyVariant Identifiers: chr3:g.183855686G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137898G>A , CM000665.2:g.184137898G>A GRCh38
NC_000003.11:g.183855686G>A , CM000665.1:g.183855686G>A GRCh37
NC_000003.10:g.185338380G>A NCBI36
NG_015826.1:g.7877G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.530G>A
ENST00000468748.7:n.490G>A
ENST00000484154.2:n.1128G>A
ENST00000491008.6:n.1255G>A
ENST00000492226.2:n.504G>A
ENST00000492773.6:c.239G>A
ENST00000647636.1:c.507G>A ENSP00000497505.1:p.Arg169=
ENST00000647909.1:c.531G>A ENSP00000498164.1:p.Arg177=
ENST00000648145.1:c.275G>A
ENST00000648189.1:c.257G>A
ENST00000648256.1:c.456G>A ENSP00000497356.1:p.Arg152=
ENST00000648314.1:c.507G>A ENSP00000496920.1:p.Arg169=
ENST00000648599.1:c.507G>A ENSP00000497159.1:p.Arg169=
ENST00000648630.1:c.501G>A ENSP00000497887.1:p.Arg167=
ENST00000648682.1:c.507G>A ENSP00000498185.1:p.Arg169=
ENST00000648882.1:c.*333G>A ENSP00000497603.1:n.*333G>A
ENST00000648890.1:c.507G>A ENSP00000497503.1:p.Arg169=
ENST00000648915.2:c.507G>A MANE Select ENSP00000497160.1:p.Arg169=
ENST00000649545.1:c.241G>A
ENST00000649688.1:c.507G>A ENSP00000497097.1:p.Arg169=
ENST00000649814.1:n.556G>A
ENST00000650244.1:c.652G>A ENSP00000497227.1:n.652G>A
ENST00000650270.1:c.374G>A
ENST00000273783.7:c.507G>A ENSP00000273783.3:p.Arg169=
ENST00000432982.5:c.245+1223G>A
ENST00000444495.1:c.507G>A ENSP00000409142.1:p.Arg169=
ENST00000481054.5:n.508G>A
ENST00000491008.5:n.471G>A
ENST00000491144.5:n.947G>A
ENST00000498831.1:n.462G>A
NM_003907.2:c.507G>A NP_003898.2:p.Arg169=
XR_924208.1:n.1458G>A
NM_003907.3:c.507G>A MANE Select NP_003898.2:p.Arg169=
XM_011513266.3:c.-395G>A XP_011511568.1:n.-395G>A
XR_001740352.2:n.870G>A
XR_001740353.2:n.870G>A
XR_924208.2:n.870G>A