Canonical Allele Identifier: CA437323874

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140519-C-T
• MyVariant Identifiers: chr3:g.183858307C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140519C>T , CM000665.2:g.184140519C>T	GRCh38
NC_000003.11:g.183858307C>T , CM000665.1:g.183858307C>T	GRCh37
NC_000003.10:g.185341001C>T	NCBI36
NG_015826.1:g.10498C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.968C>T
ENST00000468748.7:n.1188C>T
ENST00000484154.2:n.1387-1406C>T
ENST00000491008.6:n.1693C>T
ENST00000492226.2:n.1202C>T
ENST00000492773.6:c.699C>T
ENST00000647636.1:c.945C>T	ENSP00000497505.1:p.Arg315=
ENST00000647909.1:c.969C>T	ENSP00000498164.1:p.Arg323=
ENST00000648145.1:c.713C>T
ENST00000648189.1:c.759C>T
ENST00000648256.1:c.917C>T	ENSP00000497356.1:n.917C>T
ENST00000648314.1:c.*64C>T	ENSP00000496920.1:n.*64C>T
ENST00000648599.1:c.*228C>T	ENSP00000497159.1:n.*228C>T
ENST00000648630.1:c.939C>T	ENSP00000497887.1:p.Arg313=
ENST00000648682.1:c.945C>T	ENSP00000498185.1:p.Arg315=
ENST00000648882.1:c.*771C>T	ENSP00000497603.1:n.*771C>T
ENST00000648890.1:c.945C>T	ENSP00000497503.1:p.Arg315=
ENST00000648915.2:c.945C>T MANE Select	ENSP00000497160.1:p.Arg315=
ENST00000649545.1:c.577+362C>T
ENST00000649688.1:c.*228C>T	ENSP00000497097.1:n.*228C>T
ENST00000649814.1:n.994C>T
ENST00000650270.1:c.812C>T
ENST00000273783.7:c.945C>T	ENSP00000273783.3:p.Arg315=
ENST00000432982.5:c.246-1718C>T
ENST00000444495.1:c.945C>T	ENSP00000409142.1:p.Arg315=
ENST00000468748.5:n.658C>T
ENST00000479833.1:n.261C>T
ENST00000481054.5:n.1039C>T
ENST00000491144.5:n.1449C>T
ENST00000493740.1:n.175C>T
NM_003907.2:c.945C>T	NP_003898.2:p.Arg315=
XM_011513265.1:c.195C>T	XP_011511567.1:p.Arg65=
XM_011513266.1:c.108C>T	XP_011511568.1:p.Arg36=
XR_924208.1:n.1896C>T
NM_003907.3:c.945C>T MANE Select	NP_003898.2:p.Arg315=
XM_011513266.3:c.108C>T	XP_011511568.1:p.Arg36=
XR_001740352.2:n.1308C>T
XR_001740353.2:n.1308C>T
XR_924208.2:n.1308C>T