Canonical Allele Identifier: CA347592186
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575223A>G , CM000664.2:g.88575223A>G GRCh38
NC_000002.11:g.88874741A>G , CM000664.1:g.88874741A>G GRCh37
NC_000002.10:g.88655856A>G NCBI36
NG_016424.1:g.57354T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2088T>C
ENST00000682276.1:n.1705T>C
ENST00000682892.1:c.1807T>C ENSP00000507214.1:p.Ser603Pro
ENST00000682952.1:n.1899T>C
ENST00000684455.1:c.1473T>C
ENST00000684642.1:c.1657T>C ENSP00000507355.1:p.Ser553Pro
ENST00000684740.1:n.2438T>C
ENST00000303236.9:c.2260T>C MANE Select ENSP00000307235.3:p.Ser754Pro
ENST00000652099.1:c.2454T>C
ENST00000652736.1:n.2136T>C
ENST00000303236.7:c.2260T>C ENSP00000307235.3:p.Ser754Pro
ENST00000415570.1:c.1897T>C ENSP00000412076.1:p.Ser633Pro
ENST00000419748.5:c.1807T>C ENSP00000408325.1:p.Ser603Pro
ENST00000470706.1:n.48+138T>C
NM_001313915.1:c.1807T>C NP_001300844.1:p.Ser603Pro
NM_004836.5:c.2260T>C NP_004827.4:p.Ser754Pro
NM_004836.6:c.2260T>C NP_004827.4:p.Ser754Pro
NR_110236.1:n.1360A>G
XM_005264649.3:c.1576T>C XP_005264706.1:p.Ser526Pro
XM_017005376.2:c.1576T>C XP_016860865.1:p.Ser526Pro
NM_004836.7:c.2260T>C MANE Select NP_004827.4:p.Ser754Pro
NM_001313915.2:c.1807T>C NP_001300844.1:p.Ser603Pro