Canonical Allele Identifier: CA2424680428
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796094T= , CM000685.2:g.37796094T= GRCh38
NC_000023.10:g.37655347T= , CM000685.1:g.37655347T= GRCh37
NC_000023.9:g.37540287T= NCBI36
NG_009065.1:g.21074T= , LRG_53:g.21074T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*136T= ENSP00000512461.1:n.*136T=
ENST00000696171.1:c.531T= ENSP00000512462.1:p.His177=
ENST00000696172.1:c.338-2861T= ENSP00000512463.1:n.338-2861T=
ENST00000378588.5:c.627T= MANE Select ENSP00000367851.4:p.His209=
ENST00000378588.4:c.627T= ENSP00000367851.4:p.His209=
ENST00000465127.1:c.171+370094T= ENSP00000417050.1:n.171+370094T=
NM_000397.3:c.627T= , LRG_53t1:c.627T= NP_000388.2:p.His209=
XM_011543890.1:c.321T= XP_011542192.1:p.His107=
NM_000397.4:c.627T= MANE Select NP_000388.2:p.His209=