Canonical Allele Identifier: CA355387122

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184142017-G-A
• MyVariant Identifiers: chr3:g.183859805G>A (hg19) ; chr3:g.184142017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142017G>A , CM000665.2:g.184142017G>A	GRCh38
NC_000003.11:g.183859805G>A , CM000665.1:g.183859805G>A	GRCh37
NC_000003.10:g.185342499G>A	NCBI36
NG_015826.1:g.11996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1272G>A
ENST00000468748.7:n.1492G>A
ENST00000484154.2:n.1479G>A
ENST00000491008.6:n.1997G>A
ENST00000492226.2:n.1516G>A
ENST00000492773.6:c.1003G>A
ENST00000647636.1:c.*98G>A	ENSP00000497505.1:n.*98G>A
ENST00000647909.1:c.1273G>A	ENSP00000498164.1:p.Ala425Thr
ENST00000648145.1:c.1021G>A
ENST00000648189.1:c.1067G>A
ENST00000648256.1:c.1221G>A	ENSP00000497356.1:n.1221G>A
ENST00000648314.1:c.*368G>A	ENSP00000496920.1:n.*368G>A
ENST00000648599.1:c.*532G>A	ENSP00000497159.1:n.*532G>A
ENST00000648630.1:c.1128G>A	ENSP00000497887.1:p.Met376Ile
ENST00000648682.1:c.*89G>A	ENSP00000498185.1:n.*89G>A
ENST00000648882.1:c.*1075G>A	ENSP00000497603.1:n.*1075G>A
ENST00000648890.1:c.1249G>A	ENSP00000497503.1:p.Ala417Thr
ENST00000648915.2:c.1249G>A MANE Select	ENSP00000497160.1:p.Ala417Thr
ENST00000649545.1:c.670G>A
ENST00000649688.1:c.*542G>A	ENSP00000497097.1:n.*542G>A
ENST00000649814.1:n.1298G>A
ENST00000650270.1:c.1116G>A
ENST00000273783.7:c.1249G>A	ENSP00000273783.3:p.Ala417Thr
ENST00000432982.5:c.246-220G>A
ENST00000444495.1:c.1249G>A	ENSP00000409142.1:p.Ala417Thr
ENST00000479833.1:n.450G>A
ENST00000481054.5:n.1343G>A
ENST00000491144.5:n.1753G>A
ENST00000492773.5:n.132G>A
NM_003907.2:c.1249G>A	NP_003898.2:p.Ala417Thr
XM_011513265.1:c.499G>A	XP_011511567.1:p.Ala167Thr
XM_011513266.1:c.412G>A	XP_011511568.1:p.Ala138Thr
XR_924208.1:n.2200G>A
NM_003907.3:c.1249G>A MANE Select	NP_003898.2:p.Ala417Thr
XM_011513266.3:c.412G>A	XP_011511568.1:p.Ala138Thr
XR_001740352.2:n.1612G>A
XR_001740353.2:n.1612G>A
XR_924208.2:n.1612G>A