Canonical Allele Identifier: CA412975769
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795958A>T , CM000685.2:g.37795958A>T GRCh38
NC_000023.10:g.37655211A>T , CM000685.1:g.37655211A>T GRCh37
NC_000023.9:g.37540151A>T NCBI36
NG_009065.1:g.20938A>T , LRG_53:g.20938A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.345A>T ENSP00000512461.1:p.Ter115Cys
ENST00000696171.1:c.395A>T ENSP00000512462.1:p.Glu132Val
ENST00000696172.1:c.338-2997A>T ENSP00000512463.1:n.338-2997A>T
ENST00000378588.5:c.491A>T MANE Select ENSP00000367851.4:p.Glu164Val
ENST00000378588.4:c.491A>T ENSP00000367851.4:p.Glu164Val
ENST00000465127.1:c.171+369958A>T ENSP00000417050.1:n.171+369958A>T
NM_000397.3:c.491A>T , LRG_53t1:c.491A>T NP_000388.2:p.Glu164Val
XM_011543890.1:c.185A>T XP_011542192.1:p.Glu62Val
NM_000397.4:c.491A>T MANE Select NP_000388.2:p.Glu164Val