Canonical Allele Identifier: CA412976397
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796113T>A , CM000685.2:g.37796113T>A GRCh38
NC_000023.10:g.37655366T>A , CM000685.1:g.37655366T>A GRCh37
NC_000023.9:g.37540306T>A NCBI36
NG_009065.1:g.21093T>A , LRG_53:g.21093T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*155T>A ENSP00000512461.1:n.*155T>A
ENST00000696171.1:c.550T>A ENSP00000512462.1:p.Phe184Ile
ENST00000696172.1:c.338-2842T>A ENSP00000512463.1:n.338-2842T>A
ENST00000378588.5:c.646T>A MANE Select ENSP00000367851.4:p.Phe216Ile
ENST00000378588.4:c.646T>A ENSP00000367851.4:p.Phe216Ile
ENST00000465127.1:c.171+370113T>A ENSP00000417050.1:n.171+370113T>A
NM_000397.3:c.646T>A , LRG_53t1:c.646T>A NP_000388.2:p.Phe216Ile
XM_011543890.1:c.340T>A XP_011542192.1:p.Phe114Ile
NM_000397.4:c.646T>A MANE Select NP_000388.2:p.Phe216Ile