Canonical Allele Identifier: CA10616440

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88574747G>A , CM000664.2:g.88574747G>A	GRCh38
NC_000002.11:g.88874265G>A , CM000664.1:g.88874265G>A	GRCh37
NC_000002.10:g.88655380G>A	NCBI36
NG_016424.1:g.57830C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.2736C>T MANE Select	NP_004827.4:p.Ser912=
ENST00000303236.9:c.2736C>T MANE Select	ENSP00000307235.3:p.Ser912=
NM_001313915.1:c.2283C>T	NP_001300844.1:p.Ser761=
NM_001313915.2:c.2283C>T	NP_001300844.1:p.Ser761=
NM_004836.5:c.2736C>T	NP_004827.4:p.Ser912=
NM_004836.6:c.2736C>T	NP_004827.4:p.Ser912=
NR_110236.1:n.884G>A
ENST00000303236.7:c.2736C>T	ENSP00000307235.3:p.Ser912=
ENST00000415570.1:c.2373C>T	ENSP00000412076.1:p.Ser791=
ENST00000419748.5:c.2283C>T	ENSP00000408325.1:p.Ser761=
ENST00000470706.1:n.379C>T
ENST00000478003.2:n.2564C>T
ENST00000652099.1:c.2930C>T
ENST00000652736.1:n.2612C>T
ENST00000682103.1:c.277C>T
ENST00000682276.1:n.2181C>T
ENST00000682892.1:c.2283C>T	ENSP00000507214.1:p.Ser761=
ENST00000682952.1:n.2375C>T
ENST00000684455.1:c.1949C>T
ENST00000684642.1:c.2133C>T	ENSP00000507355.1:p.Ser711=
ENST00000684740.1:n.2914C>T
XM_005264649.3:c.2052C>T	XP_005264706.1:p.Ser684=
XM_017005376.2:c.2052C>T	XP_016860865.1:p.Ser684=