Canonical Allele Identifier: CA355387138

Gene: EIF2B5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1272G>T
ENST00000468748.7:n.1492G>T
ENST00000484154.2:n.1479G>T
ENST00000491008.6:n.1997G>T
ENST00000492226.2:n.1516G>T
ENST00000492773.6:c.1003G>T
ENST00000647636.1:c.*98G>T	ENSP00000497505.1:n.*98G>T
ENST00000647909.1:c.1273G>T	ENSP00000498164.1:p.Ala425Ser
ENST00000648145.1:c.1021G>T
ENST00000648189.1:c.1067G>T
ENST00000648256.1:c.1221G>T	ENSP00000497356.1:n.1221G>T
ENST00000648314.1:c.*368G>T	ENSP00000496920.1:n.*368G>T
ENST00000648599.1:c.*532G>T	ENSP00000497159.1:n.*532G>T
ENST00000648630.1:c.1128G>T	ENSP00000497887.1:p.Met376Ile
ENST00000648682.1:c.*89G>T	ENSP00000498185.1:n.*89G>T
ENST00000648882.1:c.*1075G>T	ENSP00000497603.1:n.*1075G>T
ENST00000648890.1:c.1249G>T	ENSP00000497503.1:p.Ala417Ser
ENST00000648915.2:c.1249G>T MANE Select	ENSP00000497160.1:p.Ala417Ser
ENST00000649545.1:c.670G>T
ENST00000649688.1:c.*542G>T	ENSP00000497097.1:n.*542G>T
ENST00000649814.1:n.1298G>T
ENST00000650270.1:c.1116G>T
ENST00000273783.7:c.1249G>T	ENSP00000273783.3:p.Ala417Ser
ENST00000432982.5:c.246-220G>T
ENST00000444495.1:c.1249G>T	ENSP00000409142.1:p.Ala417Ser
ENST00000479833.1:n.450G>T
ENST00000481054.5:n.1343G>T
ENST00000491144.5:n.1753G>T
ENST00000492773.5:n.132G>T
NM_003907.2:c.1249G>T	NP_003898.2:p.Ala417Ser
XM_011513265.1:c.499G>T	XP_011511567.1:p.Ala167Ser
XM_011513266.1:c.412G>T	XP_011511568.1:p.Ala138Ser
XR_924208.1:n.2200G>T
NM_003907.3:c.1249G>T MANE Select	NP_003898.2:p.Ala417Ser
XM_011513266.3:c.412G>T	XP_011511568.1:p.Ala138Ser
XR_001740352.2:n.1612G>T
XR_001740353.2:n.1612G>T
XR_924208.2:n.1612G>T