Canonical Allele Identifier: CA1754900

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88595546A>G , CM000664.2:g.88595546A>G	GRCh38
NC_000002.11:g.88895064A>G , CM000664.1:g.88895064A>G	GRCh37
NC_000002.10:g.88676179A>G	NCBI36
NG_016424.1:g.37031T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.556T>C MANE Select	NP_004827.4:p.Tyr186His
ENST00000303236.9:c.556T>C MANE Select	ENSP00000307235.3:p.Tyr186His
NM_001313915.1:c.103T>C	NP_001300844.1:p.Tyr35His
NM_001313915.2:c.103T>C	NP_001300844.1:p.Tyr35His
NM_004836.5:c.556T>C	NP_004827.4:p.Tyr186His
NM_004836.6:c.556T>C	NP_004827.4:p.Tyr186His
ENST00000303236.7:c.556T>C	ENSP00000307235.3:p.Tyr186His
ENST00000415570.1:c.193T>C	ENSP00000412076.1:p.Tyr65His
ENST00000419748.5:c.103T>C	ENSP00000408325.1:p.Tyr35His
ENST00000652099.1:c.554T>C
ENST00000652736.1:n.432T>C
ENST00000682276.1:n.11T>C
ENST00000682892.1:c.103T>C	ENSP00000507214.1:p.Tyr35His
XM_017005376.2:c.-325T>C	XP_016860865.1:n.-325T>C
XR_939749.1:n.765T>C