Canonical Allele Identifier: CA355381360

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184135553-C-A
• MyVariant Identifiers: chr3:g.183853341C>A (hg19) ; chr3:g.184135553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135553C>A , CM000665.2:g.184135553C>A	GRCh38
NC_000003.11:g.183853341C>A , CM000665.1:g.183853341C>A	GRCh37
NC_000003.10:g.185336035C>A	NCBI36
NG_015826.1:g.5532C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.168C>A	ENSP00000414775.1:p.Phe56Leu
ENST00000465218.3:n.191C>A
ENST00000468748.7:n.151C>A
ENST00000471832.2:c.168C>A	ENSP00000497786.1:p.Phe56Leu
ENST00000491008.6:n.33C>A
ENST00000492226.2:n.165C>A
ENST00000647636.1:c.168C>A	ENSP00000497505.1:p.Phe56Leu
ENST00000647909.1:c.168C>A	ENSP00000498164.1:p.Phe56Leu
ENST00000648256.1:c.117C>A	ENSP00000497356.1:p.Phe39Leu
ENST00000648314.1:c.168C>A	ENSP00000496920.1:p.Phe56Leu
ENST00000648599.1:c.168C>A	ENSP00000497159.1:p.Phe56Leu
ENST00000648630.1:c.162C>A	ENSP00000497887.1:p.Phe54Leu
ENST00000648682.1:c.168C>A	ENSP00000498185.1:p.Phe56Leu
ENST00000648882.1:c.168C>A	ENSP00000497603.1:p.Phe56Leu
ENST00000648890.1:c.168C>A	ENSP00000497503.1:p.Phe56Leu
ENST00000648915.2:c.168C>A MANE Select	ENSP00000497160.1:p.Phe56Leu
ENST00000649688.1:c.168C>A	ENSP00000497097.1:p.Phe56Leu
ENST00000649814.1:n.217C>A
ENST00000650244.1:c.60C>A	ENSP00000497227.1:p.Phe20Leu
ENST00000650270.1:c.35C>A
ENST00000273783.7:c.168C>A	ENSP00000273783.3:p.Phe56Leu
ENST00000432569.1:c.168C>A	ENSP00000414775.1:p.Phe56Leu
ENST00000432982.5:c.154C>A
ENST00000444495.1:c.168C>A	ENSP00000409142.1:p.Phe56Leu
ENST00000481054.5:n.169C>A
ENST00000491144.5:n.516C>A
NM_003907.2:c.168C>A	NP_003898.2:p.Phe56Leu
XR_924208.1:n.1119C>A
NM_003907.3:c.168C>A MANE Select	NP_003898.2:p.Phe56Leu
XM_011513266.3:c.-734C>A	XP_011511568.1:n.-734C>A
XR_001740352.2:n.531C>A
XR_001740353.2:n.531C>A
XR_924208.2:n.531C>A