Canonical Allele Identifier: CA347591632
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575098A>T , CM000664.2:g.88575098A>T GRCh38
NC_000002.11:g.88874616A>T , CM000664.1:g.88874616A>T GRCh37
NC_000002.10:g.88655731A>T NCBI36
NG_016424.1:g.57479T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2213T>A
ENST00000682276.1:n.1830T>A
ENST00000682892.1:c.1932T>A ENSP00000507214.1:p.Tyr644Ter
ENST00000682952.1:n.2024T>A
ENST00000684455.1:c.1598T>A
ENST00000684642.1:c.1782T>A ENSP00000507355.1:p.Tyr594Ter
ENST00000684740.1:n.2563T>A
ENST00000303236.9:c.2385T>A MANE Select ENSP00000307235.3:p.Tyr795Ter
ENST00000652099.1:c.2579T>A
ENST00000652736.1:n.2261T>A
ENST00000303236.7:c.2385T>A ENSP00000307235.3:p.Tyr795Ter
ENST00000415570.1:c.2022T>A ENSP00000412076.1:p.Tyr674Ter
ENST00000419748.5:c.1932T>A ENSP00000408325.1:p.Tyr644Ter
ENST00000470706.1:n.49-21T>A
NM_001313915.1:c.1932T>A NP_001300844.1:p.Tyr644Ter
NM_004836.5:c.2385T>A NP_004827.4:p.Tyr795Ter
NM_004836.6:c.2385T>A NP_004827.4:p.Tyr795Ter
NR_110236.1:n.1235A>T
XM_005264649.3:c.1701T>A XP_005264706.1:p.Tyr567Ter
XM_017005376.2:c.1701T>A XP_016860865.1:p.Tyr567Ter
NM_004836.7:c.2385T>A MANE Select NP_004827.4:p.Tyr795Ter
NM_001313915.2:c.1932T>A NP_001300844.1:p.Tyr644Ter