Canonical Allele Identifier: CA2171561795
Community Standard Title: NM_001013703.4(EIF2AK4):c.1387C= (p.Arg463=)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39967713C= , CM000677.2:g.39967713C= GRCh38
NC_000015.9:g.40259914C= , CM000677.1:g.40259914C= GRCh37
NC_000015.8:g.38047206C= NCBI36
NG_034053.1:g.38590C=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.1387C= MANE Select NP_001013725.2:p.Arg463=
ENST00000263791.10:c.1387C= MANE Select ENSP00000263791.5:p.Arg463=
NM_001013703.3:c.1387C= NP_001013725.2:p.Arg463=
ENST00000263791.9:c.1387C= ENSP00000263791.5:p.Arg463=
ENST00000559624.5:c.1387C= ENSP00000453148.1:p.Arg463=
ENST00000560855.5:c.803C=
XM_005254392.1:c.1387C= XP_005254449.1:p.Arg463=
XM_005254392.3:c.1387C= XP_005254449.1:p.Arg463=
XM_011521599.1:c.1387C= XP_011519901.1:p.Arg463=
XM_011521599.2:c.1387C= XP_011519901.1:p.Arg463=
XM_011521600.1:c.1387C= XP_011519902.1:p.Arg463=
XM_011521600.3:c.1387C= XP_011519902.1:p.Arg463=
XM_017022219.2:c.1387C= XP_016877708.1:p.Arg463=