Canonical Allele Identifier: CA347591646
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575100A>T , CM000664.2:g.88575100A>T GRCh38
NC_000002.11:g.88874618A>T , CM000664.1:g.88874618A>T GRCh37
NC_000002.10:g.88655733A>T NCBI36
NG_016424.1:g.57477T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2211T>A
ENST00000682276.1:n.1828T>A
ENST00000682892.1:c.1930T>A ENSP00000507214.1:p.Tyr644Asn
ENST00000682952.1:n.2022T>A
ENST00000684455.1:c.1596T>A
ENST00000684642.1:c.1780T>A ENSP00000507355.1:p.Tyr594Asn
ENST00000684740.1:n.2561T>A
ENST00000303236.9:c.2383T>A MANE Select ENSP00000307235.3:p.Tyr795Asn
ENST00000652099.1:c.2577T>A
ENST00000652736.1:n.2259T>A
ENST00000303236.7:c.2383T>A ENSP00000307235.3:p.Tyr795Asn
ENST00000415570.1:c.2020T>A ENSP00000412076.1:p.Tyr674Asn
ENST00000419748.5:c.1930T>A ENSP00000408325.1:p.Tyr644Asn
ENST00000470706.1:n.49-23T>A
NM_001313915.1:c.1930T>A NP_001300844.1:p.Tyr644Asn
NM_004836.5:c.2383T>A NP_004827.4:p.Tyr795Asn
NM_004836.6:c.2383T>A NP_004827.4:p.Tyr795Asn
NR_110236.1:n.1237A>T
XM_005264649.3:c.1699T>A XP_005264706.1:p.Tyr567Asn
XM_017005376.2:c.1699T>A XP_016860865.1:p.Tyr567Asn
NM_004836.7:c.2383T>A MANE Select NP_004827.4:p.Tyr795Asn
NM_001313915.2:c.1930T>A NP_001300844.1:p.Tyr644Asn