Canonical Allele Identifier: CA355385315

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858317T>A (hg19) ; chr3:g.184140529T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140529T>A , CM000665.2:g.184140529T>A	GRCh38
NC_000003.11:g.183858317T>A , CM000665.1:g.183858317T>A	GRCh37
NC_000003.10:g.185341011T>A	NCBI36
NG_015826.1:g.10508T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.978T>A
ENST00000468748.7:n.1198T>A
ENST00000484154.2:n.1387-1396T>A
ENST00000491008.6:n.1703T>A
ENST00000492226.2:n.1212T>A
ENST00000492773.6:c.709T>A
ENST00000647636.1:c.955T>A	ENSP00000497505.1:p.Tyr319Asn
ENST00000647909.1:c.979T>A	ENSP00000498164.1:p.Tyr327Asn
ENST00000648145.1:c.723T>A
ENST00000648189.1:c.769T>A
ENST00000648256.1:c.927T>A	ENSP00000497356.1:n.927T>A
ENST00000648314.1:c.*74T>A	ENSP00000496920.1:n.*74T>A
ENST00000648599.1:c.*238T>A	ENSP00000497159.1:n.*238T>A
ENST00000648630.1:c.949T>A	ENSP00000497887.1:p.Tyr317Asn
ENST00000648682.1:c.955T>A	ENSP00000498185.1:p.Tyr319Asn
ENST00000648882.1:c.*781T>A	ENSP00000497603.1:n.*781T>A
ENST00000648890.1:c.955T>A	ENSP00000497503.1:p.Tyr319Asn
ENST00000648915.2:c.955T>A MANE Select	ENSP00000497160.1:p.Tyr319Asn
ENST00000649545.1:c.577+372T>A
ENST00000649688.1:c.*238T>A	ENSP00000497097.1:n.*238T>A
ENST00000649814.1:n.1004T>A
ENST00000650270.1:c.822T>A
ENST00000273783.7:c.955T>A	ENSP00000273783.3:p.Tyr319Asn
ENST00000432982.5:c.246-1708T>A
ENST00000444495.1:c.955T>A	ENSP00000409142.1:p.Tyr319Asn
ENST00000468748.5:n.668T>A
ENST00000479833.1:n.271T>A
ENST00000481054.5:n.1049T>A
ENST00000491144.5:n.1459T>A
ENST00000493740.1:n.185T>A
NM_003907.2:c.955T>A	NP_003898.2:p.Tyr319Asn
XM_011513265.1:c.205T>A	XP_011511567.1:p.Tyr69Asn
XM_011513266.1:c.118T>A	XP_011511568.1:p.Tyr40Asn
XR_924208.1:n.1906T>A
NM_003907.3:c.955T>A MANE Select	NP_003898.2:p.Tyr319Asn
XM_011513266.3:c.118T>A	XP_011511568.1:p.Tyr40Asn
XR_001740352.2:n.1318T>A
XR_001740353.2:n.1318T>A
XR_924208.2:n.1318T>A