Canonical Allele Identifier: CA347592630
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575318A>C , CM000664.2:g.88575318A>C GRCh38
NC_000002.11:g.88874836A>C , CM000664.1:g.88874836A>C GRCh37
NC_000002.10:g.88655951A>C NCBI36
NG_016424.1:g.57259T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1993T>G
ENST00000682276.1:n.1610T>G
ENST00000682892.1:c.1712T>G ENSP00000507214.1:p.Phe571Cys
ENST00000682952.1:n.1804T>G
ENST00000684455.1:c.1378T>G
ENST00000684642.1:c.1562T>G ENSP00000507355.1:p.Phe521Cys
ENST00000684740.1:n.2343T>G
ENST00000303236.9:c.2165T>G MANE Select ENSP00000307235.3:p.Phe722Cys
ENST00000652099.1:c.2359T>G
ENST00000652736.1:n.2041T>G
ENST00000303236.7:c.2165T>G ENSP00000307235.3:p.Phe722Cys
ENST00000415570.1:c.1802T>G ENSP00000412076.1:p.Phe601Cys
ENST00000419748.5:c.1712T>G ENSP00000408325.1:p.Phe571Cys
ENST00000470706.1:n.48+43T>G
NM_001313915.1:c.1712T>G NP_001300844.1:p.Phe571Cys
NM_004836.5:c.2165T>G NP_004827.4:p.Phe722Cys
NM_004836.6:c.2165T>G NP_004827.4:p.Phe722Cys
NR_110236.1:n.1455A>C
XM_005264649.3:c.1481T>G XP_005264706.1:p.Phe494Cys
XR_939749.1:n.2444T>G
XM_017005376.2:c.1481T>G XP_016860865.1:p.Phe494Cys
NM_004836.7:c.2165T>G MANE Select NP_004827.4:p.Phe722Cys
NM_001313915.2:c.1712T>G NP_001300844.1:p.Phe571Cys