Canonical Allele Identifier: CA412977129
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803930C>G , CM000685.2:g.37803930C>G GRCh38
NC_000023.10:g.37663183C>G , CM000685.1:g.37663183C>G GRCh37
NC_000023.9:g.37548127C>G NCBI36
NG_009065.1:g.28914C>G , LRG_53:g.28914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*460C>G ENSP00000512461.1:n.*460C>G
ENST00000696171.1:c.855C>G ENSP00000512462.1:p.Phe285Leu
ENST00000378588.5:c.951C>G MANE Select ENSP00000367851.4:p.Phe317Leu
ENST00000378588.4:c.951C>G ENSP00000367851.4:p.Phe317Leu
ENST00000465127.1:c.171+377930C>G ENSP00000417050.1:n.171+377930C>G
ENST00000492288.1:n.376C>G
NM_000397.3:c.951C>G , LRG_53t1:c.951C>G NP_000388.2:p.Phe317Leu
XM_011543890.1:c.645C>G XP_011542192.1:p.Phe215Leu
NM_000397.4:c.951C>G MANE Select NP_000388.2:p.Phe317Leu