Canonical Allele Identifier: CA347591346
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575036G>T , CM000664.2:g.88575036G>T GRCh38
NC_000002.11:g.88874554G>T , CM000664.1:g.88874554G>T GRCh37
NC_000002.10:g.88655669G>T NCBI36
NG_016424.1:g.57541C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2275C>A
ENST00000682276.1:n.1892C>A
ENST00000682892.1:c.1994C>A ENSP00000507214.1:p.Ala665Asp
ENST00000682952.1:n.2086C>A
ENST00000684455.1:c.1660C>A
ENST00000684642.1:c.1844C>A ENSP00000507355.1:p.Ala615Asp
ENST00000684740.1:n.2625C>A
ENST00000303236.9:c.2447C>A MANE Select ENSP00000307235.3:p.Ala816Asp
ENST00000652099.1:c.2641C>A
ENST00000652736.1:n.2323C>A
ENST00000303236.7:c.2447C>A ENSP00000307235.3:p.Ala816Asp
ENST00000415570.1:c.2084C>A ENSP00000412076.1:p.Ala695Asp
ENST00000419748.5:c.1994C>A ENSP00000408325.1:p.Ala665Asp
ENST00000470706.1:n.90C>A
NM_001313915.1:c.1994C>A NP_001300844.1:p.Ala665Asp
NM_004836.5:c.2447C>A NP_004827.4:p.Ala816Asp
NM_004836.6:c.2447C>A NP_004827.4:p.Ala816Asp
NR_110236.1:n.1173G>T
XM_005264649.3:c.1763C>A XP_005264706.1:p.Ala588Asp
XM_017005376.2:c.1763C>A XP_016860865.1:p.Ala588Asp
NM_004836.7:c.2447C>A MANE Select NP_004827.4:p.Ala816Asp
NM_001313915.2:c.1994C>A NP_001300844.1:p.Ala665Asp