Canonical Allele Identifier: CA347584469

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88558980C>G , CM000664.2:g.88558980C>G	GRCh38
NC_000002.11:g.88858498C>G , CM000664.1:g.88858498C>G	GRCh37
NC_000002.10:g.88639613C>G	NCBI36
NG_016424.1:g.73597G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.3088-1G>C MANE Select	NP_004827.4:n.3088-1G>C
ENST00000303236.9:c.3088-1G>C MANE Select	ENSP00000307235.3:n.3088-1G>C
NM_001313915.1:c.2635-1G>C	NP_001300844.1:n.2635-1G>C
NM_001313915.2:c.2635-1G>C	NP_001300844.1:n.2635-1G>C
NM_004836.5:c.3088-1G>C	NP_004827.4:n.3088-1G>C
NM_004836.6:c.3088-1G>C	NP_004827.4:n.3088-1G>C
NR_110236.1:n.651-15534C>G
ENST00000303236.7:c.3088-1G>C	ENSP00000307235.3:n.3088-1G>C
ENST00000415570.1:c.2725-1G>C	ENSP00000412076.1:n.2725-1G>C
ENST00000419748.5:c.2635-1G>C	ENSP00000408325.1:n.2635-1G>C
ENST00000652099.1:c.3282-1G>C
ENST00000652666.1:n.117G>C
ENST00000652666.2:n.2357G>C
ENST00000652736.1:n.2964-1G>C
ENST00000682103.1:c.583-1G>C
ENST00000682276.1:n.2533-1G>C
ENST00000682468.1:n.626-1G>C
ENST00000682603.1:c.218-1044G>C
ENST00000682844.1:c.144-1G>C
ENST00000682892.1:c.2635-1G>C	ENSP00000507214.1:n.2635-1G>C
ENST00000682952.1:n.2727-1G>C
ENST00000683663.1:n.3074-1G>C
ENST00000684455.1:c.2301-1G>C
ENST00000684642.1:c.2317-1G>C	ENSP00000507355.1:n.2317-1G>C
ENST00000684740.1:n.3266-1G>C
XM_005264649.3:c.2404-1G>C	XP_005264706.1:n.2404-1G>C
XM_017005376.2:c.2404-1G>C	XP_016860865.1:n.2404-1G>C