Canonical Allele Identifier: CA412977250
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803982C>A , CM000685.2:g.37803982C>A GRCh38
NC_000023.10:g.37663235C>A , CM000685.1:g.37663235C>A GRCh37
NC_000023.9:g.37548179C>A NCBI36
NG_009065.1:g.28966C>A , LRG_53:g.28966C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*512C>A ENSP00000512461.1:n.*512C>A
ENST00000696171.1:c.907C>A ENSP00000512462.1:p.Leu303Met
ENST00000378588.5:c.1003C>A MANE Select ENSP00000367851.4:p.Leu335Met
ENST00000378588.4:c.1003C>A ENSP00000367851.4:p.Leu335Met
ENST00000465127.1:c.171+377982C>A ENSP00000417050.1:n.171+377982C>A
ENST00000492288.1:n.428C>A
NM_000397.3:c.1003C>A , LRG_53t1:c.1003C>A NP_000388.2:p.Leu335Met
XM_011543890.1:c.697C>A XP_011542192.1:p.Leu233Met
NM_000397.4:c.1003C>A MANE Select NP_000388.2:p.Leu335Met