Canonical Allele Identifier: CA437323846

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140507-T-A
• MyVariant Identifiers: chr3:g.183858295T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140507T>A , CM000665.2:g.184140507T>A	GRCh38
NC_000003.11:g.183858295T>A , CM000665.1:g.183858295T>A	GRCh37
NC_000003.10:g.185340989T>A	NCBI36
NG_015826.1:g.10486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.956T>A
ENST00000468748.7:n.1176T>A
ENST00000484154.2:n.1387-1418T>A
ENST00000491008.6:n.1681T>A
ENST00000492226.2:n.1190T>A
ENST00000492773.6:c.687T>A
ENST00000647636.1:c.933T>A	ENSP00000497505.1:p.Ala311=
ENST00000647909.1:c.957T>A	ENSP00000498164.1:p.Ala319=
ENST00000648145.1:c.701T>A
ENST00000648189.1:c.747T>A
ENST00000648256.1:c.905T>A	ENSP00000497356.1:n.905T>A
ENST00000648314.1:c.*52T>A	ENSP00000496920.1:n.*52T>A
ENST00000648599.1:c.*216T>A	ENSP00000497159.1:n.*216T>A
ENST00000648630.1:c.927T>A	ENSP00000497887.1:p.Ala309=
ENST00000648682.1:c.933T>A	ENSP00000498185.1:p.Ala311=
ENST00000648882.1:c.*759T>A	ENSP00000497603.1:n.*759T>A
ENST00000648890.1:c.933T>A	ENSP00000497503.1:p.Ala311=
ENST00000648915.2:c.933T>A MANE Select	ENSP00000497160.1:p.Ala311=
ENST00000649545.1:c.577+350T>A
ENST00000649688.1:c.*216T>A	ENSP00000497097.1:n.*216T>A
ENST00000649814.1:n.982T>A
ENST00000650270.1:c.800T>A
ENST00000273783.7:c.933T>A	ENSP00000273783.3:p.Ala311=
ENST00000432982.5:c.246-1730T>A
ENST00000444495.1:c.933T>A	ENSP00000409142.1:p.Ala311=
ENST00000468748.5:n.646T>A
ENST00000479833.1:n.249T>A
ENST00000481054.5:n.1027T>A
ENST00000491144.5:n.1437T>A
ENST00000493740.1:n.163T>A
NM_003907.2:c.933T>A	NP_003898.2:p.Ala311=
XM_011513265.1:c.183T>A	XP_011511567.1:p.Ala61=
XM_011513266.1:c.96T>A	XP_011511568.1:p.Ala32=
XR_924208.1:n.1884T>A
NM_003907.3:c.933T>A MANE Select	NP_003898.2:p.Ala311=
XM_011513266.3:c.96T>A	XP_011511568.1:p.Ala32=
XR_001740352.2:n.1296T>A
XR_001740353.2:n.1296T>A
XR_924208.2:n.1296T>A