Canonical Allele Identifier: CA347586959

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88570890T>C , CM000664.2:g.88570890T>C	GRCh38
NC_000002.11:g.88870408T>C , CM000664.1:g.88870408T>C	GRCh37
NC_000002.10:g.88651523T>C	NCBI36
NG_016424.1:g.61687A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.2969A>G MANE Select	NP_004827.4:p.Tyr990Cys
ENST00000303236.9:c.2969A>G MANE Select	ENSP00000307235.3:p.Tyr990Cys
NM_001313915.1:c.2516A>G	NP_001300844.1:p.Tyr839Cys
NM_001313915.2:c.2516A>G	NP_001300844.1:p.Tyr839Cys
NM_004836.5:c.2969A>G	NP_004827.4:p.Tyr990Cys
NM_004836.6:c.2969A>G	NP_004827.4:p.Tyr990Cys
NR_110236.1:n.651-3624T>C
ENST00000303236.7:c.2969A>G	ENSP00000307235.3:p.Tyr990Cys
ENST00000415570.1:c.2606A>G	ENSP00000412076.1:p.Tyr869Cys
ENST00000419748.5:c.2516A>G	ENSP00000408325.1:p.Tyr839Cys
ENST00000478003.2:n.2797A>G
ENST00000652099.1:c.3163A>G
ENST00000652736.1:n.2845A>G
ENST00000682103.1:c.510A>G
ENST00000682276.1:n.2414A>G
ENST00000682468.1:n.507A>G
ENST00000682603.1:c.201A>G
ENST00000682844.1:c.25A>G
ENST00000682892.1:c.2516A>G	ENSP00000507214.1:p.Tyr839Cys
ENST00000682952.1:n.2608A>G
ENST00000684455.1:c.2182A>G
ENST00000684642.1:c.2214+3776A>G	ENSP00000507355.1:n.2214+3776A>G
ENST00000684740.1:n.3147A>G
XM_005264649.3:c.2285A>G	XP_005264706.1:p.Tyr762Cys
XM_017005376.2:c.2285A>G	XP_016860865.1:p.Tyr762Cys