Canonical Allele Identifier: CA2424682988
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804020G= , CM000685.2:g.37804020G= GRCh38
NC_000023.10:g.37663273G= , CM000685.1:g.37663273G= GRCh37
NC_000023.9:g.37548217G= NCBI36
NG_009065.1:g.29004G= , LRG_53:g.29004G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*550G= ENSP00000512461.1:n.*550G=
ENST00000696171.1:c.945G= ENSP00000512462.1:p.Glu315=
ENST00000378588.5:c.1041G= MANE Select ENSP00000367851.4:p.Glu347=
ENST00000378588.4:c.1041G= ENSP00000367851.4:p.Glu347=
ENST00000465127.1:c.171+378020G= ENSP00000417050.1:n.171+378020G=
ENST00000492288.1:n.466G=
NM_000397.3:c.1041G= , LRG_53t1:c.1041G= NP_000388.2:p.Glu347=
XM_011543890.1:c.735G= XP_011542192.1:p.Glu245=
NM_000397.4:c.1041G= MANE Select NP_000388.2:p.Glu347=