Canonical Allele Identifier: CA355381063

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184135423-T-A
• MyVariant Identifiers: chr3:g.183853211T>A (hg19) ; chr3:g.184135423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135423T>A , CM000665.2:g.184135423T>A	GRCh38
NC_000003.11:g.183853211T>A , CM000665.1:g.183853211T>A	GRCh37
NC_000003.10:g.185335905T>A	NCBI36
NG_015826.1:g.5402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.38T>A	ENSP00000414775.1:p.Val13Asp
ENST00000465218.3:n.61T>A
ENST00000468748.7:n.21T>A
ENST00000471832.2:c.38T>A	ENSP00000497786.1:p.Val13Asp
ENST00000492226.2:n.35T>A
ENST00000647636.1:c.38T>A	ENSP00000497505.1:p.Val13Asp
ENST00000647909.1:c.38T>A	ENSP00000498164.1:p.Val13Asp
ENST00000648314.1:c.38T>A	ENSP00000496920.1:p.Val13Asp
ENST00000648599.1:c.38T>A	ENSP00000497159.1:p.Val13Asp
ENST00000648630.1:c.32T>A	ENSP00000497887.1:p.Val11Asp
ENST00000648682.1:c.38T>A	ENSP00000498185.1:p.Val13Asp
ENST00000648882.1:c.38T>A	ENSP00000497603.1:p.Val13Asp
ENST00000648890.1:c.38T>A	ENSP00000497503.1:p.Val13Asp
ENST00000648915.2:c.38T>A MANE Select	ENSP00000497160.1:p.Val13Asp
ENST00000649688.1:c.38T>A	ENSP00000497097.1:p.Val13Asp
ENST00000649814.1:n.87T>A
ENST00000273783.7:c.38T>A	ENSP00000273783.3:p.Val13Asp
ENST00000432569.1:c.38T>A	ENSP00000414775.1:p.Val13Asp
ENST00000432982.5:c.24T>A
ENST00000444495.1:c.38T>A	ENSP00000409142.1:p.Val13Asp
ENST00000481054.5:n.39T>A
ENST00000491144.5:n.386T>A
NM_003907.2:c.38T>A	NP_003898.2:p.Val13Asp
XR_924208.1:n.989T>A
NM_003907.3:c.38T>A MANE Select	NP_003898.2:p.Val13Asp
XM_011513266.3:c.-864T>A	XP_011511568.1:n.-864T>A
XR_001740352.2:n.401T>A
XR_001740353.2:n.401T>A
XR_924208.2:n.401T>A