Canonical Allele Identifier: CA437323523
Gene: EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.183855579C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137791C>G , CM000665.2:g.184137791C>G GRCh38
NC_000003.11:g.183855579C>G , CM000665.1:g.183855579C>G GRCh37
NC_000003.10:g.185338273C>G NCBI36
NG_015826.1:g.7770C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.515C>G
ENST00000468748.7:n.475C>G
ENST00000484154.2:n.1113C>G
ENST00000491008.6:n.1240C>G
ENST00000492226.2:n.489C>G
ENST00000492773.6:c.224C>G
ENST00000647636.1:c.492C>G ENSP00000497505.1:p.Ala164=
ENST00000647909.1:c.492C>G ENSP00000498164.1:p.Ala164=
ENST00000648145.1:c.260C>G
ENST00000648189.1:c.242C>G
ENST00000648256.1:c.441C>G ENSP00000497356.1:p.Ala147=
ENST00000648314.1:c.492C>G ENSP00000496920.1:p.Ala164=
ENST00000648599.1:c.492C>G ENSP00000497159.1:p.Ala164=
ENST00000648630.1:c.486C>G ENSP00000497887.1:p.Ala162=
ENST00000648682.1:c.492C>G ENSP00000498185.1:p.Ala164=
ENST00000648882.1:c.*318C>G ENSP00000497603.1:n.*318C>G
ENST00000648890.1:c.492C>G ENSP00000497503.1:p.Ala164=
ENST00000648915.2:c.492C>G MANE Select ENSP00000497160.1:p.Ala164=
ENST00000649545.1:c.226C>G
ENST00000649688.1:c.492C>G ENSP00000497097.1:p.Ala164=
ENST00000649814.1:n.541C>G
ENST00000650244.1:c.637C>G ENSP00000497227.1:n.637C>G
ENST00000650270.1:c.359C>G
ENST00000273783.7:c.492C>G ENSP00000273783.3:p.Ala164=
ENST00000432982.5:c.245+1116C>G
ENST00000444495.1:c.492C>G ENSP00000409142.1:p.Ala164=
ENST00000481054.5:n.493C>G
ENST00000491008.5:n.456C>G
ENST00000491144.5:n.840C>G
ENST00000498831.1:n.447C>G
NM_003907.2:c.492C>G NP_003898.2:p.Ala164=
XR_924208.1:n.1443C>G
NM_003907.3:c.492C>G MANE Select NP_003898.2:p.Ala164=
XM_011513266.3:c.-410C>G XP_011511568.1:n.-410C>G
XR_001740352.2:n.855C>G
XR_001740353.2:n.855C>G
XR_924208.2:n.855C>G