Canonical Allele Identifier: CA355381365

Gene: EIF2B5

Linked Data

• dbSNP Id: rs758129111
• gnomAD v2: 3-183853343-T-A
• gnomAD v3: 3-184135555-T-A
• gnomAD v4: 3-184135555-T-A
• MyVariant Identifiers: chr3:g.183853343T>A (hg19) ; chr3:g.184135555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135555T>A , CM000665.2:g.184135555T>A	GRCh38
NC_000003.11:g.183853343T>A , CM000665.1:g.183853343T>A	GRCh37
NC_000003.10:g.185336037T>A	NCBI36
NG_015826.1:g.5534T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.170T>A	ENSP00000414775.1:p.Phe57Tyr
ENST00000465218.3:n.193T>A
ENST00000468748.7:n.153T>A
ENST00000471832.2:c.170T>A	ENSP00000497786.1:p.Phe57Tyr
ENST00000491008.6:n.35T>A
ENST00000492226.2:n.167T>A
ENST00000647636.1:c.170T>A	ENSP00000497505.1:p.Phe57Tyr
ENST00000647909.1:c.170T>A	ENSP00000498164.1:p.Phe57Tyr
ENST00000648256.1:c.119T>A	ENSP00000497356.1:p.Phe40Tyr
ENST00000648314.1:c.170T>A	ENSP00000496920.1:p.Phe57Tyr
ENST00000648599.1:c.170T>A	ENSP00000497159.1:p.Phe57Tyr
ENST00000648630.1:c.164T>A	ENSP00000497887.1:p.Phe55Tyr
ENST00000648682.1:c.170T>A	ENSP00000498185.1:p.Phe57Tyr
ENST00000648882.1:c.170T>A	ENSP00000497603.1:p.Phe57Tyr
ENST00000648890.1:c.170T>A	ENSP00000497503.1:p.Phe57Tyr
ENST00000648915.2:c.170T>A MANE Select	ENSP00000497160.1:p.Phe57Tyr
ENST00000649688.1:c.170T>A	ENSP00000497097.1:p.Phe57Tyr
ENST00000649814.1:n.219T>A
ENST00000650244.1:c.62T>A	ENSP00000497227.1:p.Phe21Tyr
ENST00000650270.1:c.37T>A
ENST00000273783.7:c.170T>A	ENSP00000273783.3:p.Phe57Tyr
ENST00000432569.1:c.170T>A	ENSP00000414775.1:p.Phe57Tyr
ENST00000432982.5:c.156T>A
ENST00000444495.1:c.170T>A	ENSP00000409142.1:p.Phe57Tyr
ENST00000481054.5:n.171T>A
ENST00000491144.5:n.518T>A
NM_003907.2:c.170T>A	NP_003898.2:p.Phe57Tyr
XR_924208.1:n.1121T>A
NM_003907.3:c.170T>A MANE Select	NP_003898.2:p.Phe57Tyr
XM_011513266.3:c.-732T>A	XP_011511568.1:n.-732T>A
XR_001740352.2:n.533T>A
XR_001740353.2:n.533T>A
XR_924208.2:n.533T>A