Canonical Allele Identifier: CA355381357

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184135551-T-C
• MyVariant Identifiers: chr3:g.183853339T>C (hg19) ; chr3:g.184135551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135551T>C , CM000665.2:g.184135551T>C	GRCh38
NC_000003.11:g.183853339T>C , CM000665.1:g.183853339T>C	GRCh37
NC_000003.10:g.185336033T>C	NCBI36
NG_015826.1:g.5530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.166T>C	ENSP00000414775.1:p.Phe56Leu
ENST00000465218.3:n.189T>C
ENST00000468748.7:n.149T>C
ENST00000471832.2:c.166T>C	ENSP00000497786.1:p.Phe56Leu
ENST00000491008.6:n.31T>C
ENST00000492226.2:n.163T>C
ENST00000647636.1:c.166T>C	ENSP00000497505.1:p.Phe56Leu
ENST00000647909.1:c.166T>C	ENSP00000498164.1:p.Phe56Leu
ENST00000648256.1:c.115T>C	ENSP00000497356.1:p.Phe39Leu
ENST00000648314.1:c.166T>C	ENSP00000496920.1:p.Phe56Leu
ENST00000648599.1:c.166T>C	ENSP00000497159.1:p.Phe56Leu
ENST00000648630.1:c.160T>C	ENSP00000497887.1:p.Phe54Leu
ENST00000648682.1:c.166T>C	ENSP00000498185.1:p.Phe56Leu
ENST00000648882.1:c.166T>C	ENSP00000497603.1:p.Phe56Leu
ENST00000648890.1:c.166T>C	ENSP00000497503.1:p.Phe56Leu
ENST00000648915.2:c.166T>C MANE Select	ENSP00000497160.1:p.Phe56Leu
ENST00000649688.1:c.166T>C	ENSP00000497097.1:p.Phe56Leu
ENST00000649814.1:n.215T>C
ENST00000650244.1:c.58T>C	ENSP00000497227.1:p.Phe20Leu
ENST00000650270.1:c.33T>C
ENST00000273783.7:c.166T>C	ENSP00000273783.3:p.Phe56Leu
ENST00000432569.1:c.166T>C	ENSP00000414775.1:p.Phe56Leu
ENST00000432982.5:c.152T>C
ENST00000444495.1:c.166T>C	ENSP00000409142.1:p.Phe56Leu
ENST00000481054.5:n.167T>C
ENST00000491144.5:n.514T>C
NM_003907.2:c.166T>C	NP_003898.2:p.Phe56Leu
XR_924208.1:n.1117T>C
NM_003907.3:c.166T>C MANE Select	NP_003898.2:p.Phe56Leu
XM_011513266.3:c.-736T>C	XP_011511568.1:n.-736T>C
XR_001740352.2:n.529T>C
XR_001740353.2:n.529T>C
XR_924208.2:n.529T>C