Canonical Allele Identifier: CA1425885836
Community Standard Title: NM_003907.3(EIF2B5):c.1028A= (p.Tyr343=)
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140602A= , CM000665.2:g.184140602A= GRCh38
NC_000003.11:g.183858390A= , CM000665.1:g.183858390A= GRCh37
NC_000003.10:g.185341084A= NCBI36
NG_015826.1:g.10581A=

Transcript Alleles

HGVS Amino-acid Change
NM_003907.3:c.1028A= MANE Select NP_003898.2:p.Tyr343=
ENST00000648915.2:c.1028A= MANE Select ENSP00000497160.1:p.Tyr343=
NM_003907.2:c.1028A= NP_003898.2:p.Tyr343=
ENST00000273783.7:c.1028A= ENSP00000273783.3:p.Tyr343=
ENST00000432982.5:c.246-1635A=
ENST00000444495.1:c.1028A= ENSP00000409142.1:p.Tyr343=
ENST00000465218.3:n.1051A=
ENST00000468748.7:n.1271A=
ENST00000479833.1:n.344A=
ENST00000481054.5:n.1122A=
ENST00000484154.2:n.1387-1323A=
ENST00000491008.6:n.1776A=
ENST00000491144.5:n.1532A=
ENST00000492226.2:n.1285A=
ENST00000492773.6:c.782A=
ENST00000493740.1:n.258A=
ENST00000647636.1:c.1028A= ENSP00000497505.1:p.Tyr343=
ENST00000647909.1:c.1052A= ENSP00000498164.1:p.Tyr351=
ENST00000648145.1:c.796A=
ENST00000648189.1:c.842A=
ENST00000648256.1:c.1000A= ENSP00000497356.1:n.1000A=
ENST00000648314.1:c.*147A= ENSP00000496920.1:n.*147A=
ENST00000648599.1:c.*311A= ENSP00000497159.1:n.*311A=
ENST00000648630.1:c.1022A= ENSP00000497887.1:p.Tyr341=
ENST00000648682.1:c.1028A= ENSP00000498185.1:p.Tyr343=
ENST00000648882.1:c.*854A= ENSP00000497603.1:n.*854A=
ENST00000648890.1:c.1028A= ENSP00000497503.1:p.Tyr343=
ENST00000649545.1:c.577+445A=
ENST00000649688.1:c.*311A= ENSP00000497097.1:n.*311A=
ENST00000649814.1:n.1077A=
ENST00000650270.1:c.895A=
XM_011513265.1:c.278A= XP_011511567.1:p.Tyr93=
XM_011513266.1:c.191A= XP_011511568.1:p.Tyr64=
XM_011513266.3:c.191A= XP_011511568.1:p.Tyr64=
XR_001740352.2:n.1391A=
XR_001740353.2:n.1391A=
XR_924208.1:n.1979A=
XR_924208.2:n.1391A=