Canonical Allele Identifier: CA437323291

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137644-A-C
• MyVariant Identifiers: chr3:g.183855432A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137644A>C , CM000665.2:g.184137644A>C	GRCh38
NC_000003.11:g.183855432A>C , CM000665.1:g.183855432A>C	GRCh37
NC_000003.10:g.185338126A>C	NCBI36
NG_015826.1:g.7623A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.368A>C
ENST00000468748.7:n.328A>C
ENST00000484154.2:n.966A>C
ENST00000491008.6:n.1093A>C
ENST00000492226.2:n.342A>C
ENST00000492773.6:c.77A>C
ENST00000647636.1:c.345A>C	ENSP00000497505.1:p.Thr115=
ENST00000647909.1:c.345A>C	ENSP00000498164.1:p.Thr115=
ENST00000648145.1:c.113A>C
ENST00000648189.1:c.95A>C
ENST00000648256.1:c.294A>C	ENSP00000497356.1:p.Thr98=
ENST00000648314.1:c.345A>C	ENSP00000496920.1:p.Thr115=
ENST00000648599.1:c.345A>C	ENSP00000497159.1:p.Thr115=
ENST00000648630.1:c.339A>C	ENSP00000497887.1:p.Thr113=
ENST00000648682.1:c.345A>C	ENSP00000498185.1:p.Thr115=
ENST00000648882.1:c.*171A>C	ENSP00000497603.1:n.*171A>C
ENST00000648890.1:c.345A>C	ENSP00000497503.1:p.Thr115=
ENST00000648915.2:c.345A>C MANE Select	ENSP00000497160.1:p.Thr115=
ENST00000649545.1:c.79A>C
ENST00000649688.1:c.345A>C	ENSP00000497097.1:p.Thr115=
ENST00000649814.1:n.394A>C
ENST00000650244.1:c.490A>C	ENSP00000497227.1:n.490A>C
ENST00000650270.1:c.212A>C
ENST00000273783.7:c.345A>C	ENSP00000273783.3:p.Thr115=
ENST00000432982.5:c.245+969A>C
ENST00000444495.1:c.345A>C	ENSP00000409142.1:p.Thr115=
ENST00000481054.5:n.346A>C
ENST00000491008.5:n.309A>C
ENST00000491144.5:n.693A>C
ENST00000498831.1:n.300A>C
NM_003907.2:c.345A>C	NP_003898.2:p.Thr115=
XR_924208.1:n.1296A>C
NM_003907.3:c.345A>C MANE Select	NP_003898.2:p.Thr115=
XM_011513266.3:c.-557A>C	XP_011511568.1:n.-557A>C
XR_001740352.2:n.708A>C
XR_001740353.2:n.708A>C
XR_924208.2:n.708A>C