Canonical Allele Identifier: CA1425885776
Community Standard Title: NM_003907.3(EIF2B5):c.1003T= (p.Cys335=)
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140577T= , CM000665.2:g.184140577T= GRCh38
NC_000003.11:g.183858365T= , CM000665.1:g.183858365T= GRCh37
NC_000003.10:g.185341059T= NCBI36
NG_015826.1:g.10556T=

Transcript Alleles

HGVS Amino-acid Change
NM_003907.3:c.1003T= MANE Select NP_003898.2:p.Cys335=
ENST00000648915.2:c.1003T= MANE Select ENSP00000497160.1:p.Cys335=
NM_003907.2:c.1003T= NP_003898.2:p.Cys335=
ENST00000273783.7:c.1003T= ENSP00000273783.3:p.Cys335=
ENST00000432982.5:c.246-1660T=
ENST00000444495.1:c.1003T= ENSP00000409142.1:p.Cys335=
ENST00000465218.3:n.1026T=
ENST00000468748.7:n.1246T=
ENST00000479833.1:n.319T=
ENST00000481054.5:n.1097T=
ENST00000484154.2:n.1387-1348T=
ENST00000491008.6:n.1751T=
ENST00000491144.5:n.1507T=
ENST00000492226.2:n.1260T=
ENST00000492773.6:c.757T=
ENST00000493740.1:n.233T=
ENST00000647636.1:c.1003T= ENSP00000497505.1:p.Cys335=
ENST00000647909.1:c.1027T= ENSP00000498164.1:p.Cys343=
ENST00000648145.1:c.771T=
ENST00000648189.1:c.817T=
ENST00000648256.1:c.975T= ENSP00000497356.1:n.975T=
ENST00000648314.1:c.*122T= ENSP00000496920.1:n.*122T=
ENST00000648599.1:c.*286T= ENSP00000497159.1:n.*286T=
ENST00000648630.1:c.997T= ENSP00000497887.1:p.Cys333=
ENST00000648682.1:c.1003T= ENSP00000498185.1:p.Cys335=
ENST00000648882.1:c.*829T= ENSP00000497603.1:n.*829T=
ENST00000648890.1:c.1003T= ENSP00000497503.1:p.Cys335=
ENST00000649545.1:c.577+420T=
ENST00000649688.1:c.*286T= ENSP00000497097.1:n.*286T=
ENST00000649814.1:n.1052T=
ENST00000650270.1:c.870T=
XM_011513265.1:c.253T= XP_011511567.1:p.Cys85=
XM_011513266.1:c.166T= XP_011511568.1:p.Cys56=
XM_011513266.3:c.166T= XP_011511568.1:p.Cys56=
XR_001740352.2:n.1366T=
XR_001740353.2:n.1366T=
XR_924208.1:n.1954T=
XR_924208.2:n.1366T=