Canonical Allele Identifier: CA88839990

Gene: EIF2B5

Linked Data

• dbSNP Id: rs113994041
• gnomAD v4: 3-184135432-C-A
• MyVariant Identifiers: chr3:g.183853220C>A (hg19) ; chr3:g.184135432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135432C>A , CM000665.2:g.184135432C>A	GRCh38
NC_000003.11:g.183853220C>A , CM000665.1:g.183853220C>A	GRCh37
NC_000003.10:g.185335914C>A	NCBI36
NG_015826.1:g.5411C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.47C>A	ENSP00000414775.1:p.Ala16Asp
ENST00000465218.3:n.70C>A
ENST00000468748.7:n.30C>A
ENST00000471832.2:c.47C>A	ENSP00000497786.1:p.Ala16Asp
ENST00000492226.2:n.44C>A
ENST00000647636.1:c.47C>A	ENSP00000497505.1:p.Ala16Asp
ENST00000647909.1:c.47C>A	ENSP00000498164.1:p.Ala16Asp
ENST00000648314.1:c.47C>A	ENSP00000496920.1:p.Ala16Asp
ENST00000648599.1:c.47C>A	ENSP00000497159.1:p.Ala16Asp
ENST00000648630.1:c.41C>A	ENSP00000497887.1:p.Ala14Asp
ENST00000648682.1:c.47C>A	ENSP00000498185.1:p.Ala16Asp
ENST00000648882.1:c.47C>A	ENSP00000497603.1:p.Ala16Asp
ENST00000648890.1:c.47C>A	ENSP00000497503.1:p.Ala16Asp
ENST00000648915.2:c.47C>A MANE Select	ENSP00000497160.1:p.Ala16Asp
ENST00000649688.1:c.47C>A	ENSP00000497097.1:p.Ala16Asp
ENST00000649814.1:n.96C>A
ENST00000273783.7:c.47C>A	ENSP00000273783.3:p.Ala16Asp
ENST00000432569.1:c.47C>A	ENSP00000414775.1:p.Ala16Asp
ENST00000432982.5:c.33C>A
ENST00000444495.1:c.47C>A	ENSP00000409142.1:p.Ala16Asp
ENST00000481054.5:n.48C>A
ENST00000491144.5:n.395C>A
NM_003907.2:c.47C>A	NP_003898.2:p.Ala16Asp
XR_924208.1:n.998C>A
NM_003907.3:c.47C>A MANE Select	NP_003898.2:p.Ala16Asp
XM_011513266.3:c.-855C>A	XP_011511568.1:n.-855C>A
XR_001740352.2:n.410C>A
XR_001740353.2:n.410C>A
XR_924208.2:n.410C>A