Canonical Allele Identifier: CA2627751916
Gene: EIF2AK4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978161T>G , CM000677.2:g.39978161T>G GRCh38
NC_000015.9:g.40270362T>G , CM000677.1:g.40270362T>G GRCh37
NC_000015.8:g.38057654T>G NCBI36
NG_034053.1:g.49038T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263791.10:c.2319+14T>G MANE Select ENSP00000263791.5:n.2319+14T>G
ENST00000263791.9:c.2319+14T>G ENSP00000263791.5:n.2319+14T>G
ENST00000560855.5:c.1735+14T>G
ENST00000624709.1:n.1183T>G
NM_001013703.3:c.2319+14T>G NP_001013725.2:n.2319+14T>G
XM_005254392.1:c.2319+14T>G XP_005254449.1:n.2319+14T>G
XM_011521599.1:c.2319+14T>G XP_011519901.1:n.2319+14T>G
XM_011521600.1:c.2319+14T>G XP_011519902.1:n.2319+14T>G
XM_005254392.3:c.2319+14T>G XP_005254449.1:n.2319+14T>G
XM_011521599.2:c.2319+14T>G XP_011519901.1:n.2319+14T>G
XM_011521600.3:c.2319+14T>G XP_011519902.1:n.2319+14T>G
XM_017022219.2:c.2319+14T>G XP_016877708.1:n.2319+14T>G
NM_001013703.4:c.2319+14T>G MANE Select NP_001013725.2:n.2319+14T>G