Canonical Allele Identifier: CA2424680402
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796012T= , CM000685.2:g.37796012T= GRCh38
NC_000023.10:g.37655265T= , CM000685.1:g.37655265T= GRCh37
NC_000023.9:g.37540205T= NCBI36
NG_009065.1:g.20992T= , LRG_53:g.20992T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*54T= ENSP00000512461.1:n.*54T=
ENST00000696171.1:c.449T= ENSP00000512462.1:p.Ile150=
ENST00000696172.1:c.338-2943T= ENSP00000512463.1:n.338-2943T=
ENST00000378588.5:c.545T= MANE Select ENSP00000367851.4:p.Ile182=
ENST00000378588.4:c.545T= ENSP00000367851.4:p.Ile182=
ENST00000465127.1:c.171+370012T= ENSP00000417050.1:n.171+370012T=
NM_000397.3:c.545T= , LRG_53t1:c.545T= NP_000388.2:p.Ile182=
XM_011543890.1:c.239T= XP_011542192.1:p.Ile80=
NM_000397.4:c.545T= MANE Select NP_000388.2:p.Ile182=