Canonical Allele Identifier: CA347591518
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575072G>T , CM000664.2:g.88575072G>T GRCh38
NC_000002.11:g.88874590G>T , CM000664.1:g.88874590G>T GRCh37
NC_000002.10:g.88655705G>T NCBI36
NG_016424.1:g.57505C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2239C>A
ENST00000682276.1:n.1856C>A
ENST00000682892.1:c.1958C>A ENSP00000507214.1:p.Ser653Tyr
ENST00000682952.1:n.2050C>A
ENST00000684455.1:c.1624C>A
ENST00000684642.1:c.1808C>A ENSP00000507355.1:p.Ser603Tyr
ENST00000684740.1:n.2589C>A
ENST00000303236.9:c.2411C>A MANE Select ENSP00000307235.3:p.Ser804Tyr
ENST00000652099.1:c.2605C>A
ENST00000652736.1:n.2287C>A
ENST00000303236.7:c.2411C>A ENSP00000307235.3:p.Ser804Tyr
ENST00000415570.1:c.2048C>A ENSP00000412076.1:p.Ser683Tyr
ENST00000419748.5:c.1958C>A ENSP00000408325.1:p.Ser653Tyr
ENST00000470706.1:n.54C>A
NM_001313915.1:c.1958C>A NP_001300844.1:p.Ser653Tyr
NM_004836.5:c.2411C>A NP_004827.4:p.Ser804Tyr
NM_004836.6:c.2411C>A NP_004827.4:p.Ser804Tyr
NR_110236.1:n.1209G>T
XM_005264649.3:c.1727C>A XP_005264706.1:p.Ser576Tyr
XM_017005376.2:c.1727C>A XP_016860865.1:p.Ser576Tyr
NM_004836.7:c.2411C>A MANE Select NP_004827.4:p.Ser804Tyr
NM_001313915.2:c.1958C>A NP_001300844.1:p.Ser653Tyr