Canonical Allele Identifier: CA2424680414
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796057T= , CM000685.2:g.37796057T= GRCh38
NC_000023.10:g.37655310T= , CM000685.1:g.37655310T= GRCh37
NC_000023.9:g.37540250T= NCBI36
NG_009065.1:g.21037T= , LRG_53:g.21037T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*99T= ENSP00000512461.1:n.*99T=
ENST00000696171.1:c.494T= ENSP00000512462.1:p.Ile165=
ENST00000696172.1:c.338-2898T= ENSP00000512463.1:n.338-2898T=
ENST00000378588.5:c.590T= MANE Select ENSP00000367851.4:p.Ile197=
ENST00000378588.4:c.590T= ENSP00000367851.4:p.Ile197=
ENST00000465127.1:c.171+370057T= ENSP00000417050.1:n.171+370057T=
NM_000397.3:c.590T= , LRG_53t1:c.590T= NP_000388.2:p.Ile197=
XM_011543890.1:c.284T= XP_011542192.1:p.Ile95=
NM_000397.4:c.590T= MANE Select NP_000388.2:p.Ile197=