Canonical Allele Identifier: CA412977612
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805008T>G , CM000685.2:g.37805008T>G GRCh38
NC_000023.10:g.37664261T>G , CM000685.1:g.37664261T>G GRCh37
NC_000023.9:g.37549205T>G NCBI36
NG_009065.1:g.29992T>G , LRG_53:g.29992T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*663T>G ENSP00000512461.1:n.*663T>G
ENST00000696171.1:c.1058T>G ENSP00000512462.1:p.Ile353Arg
ENST00000378588.5:c.1154T>G MANE Select ENSP00000367851.4:p.Ile385Arg
ENST00000378588.4:c.1154T>G ENSP00000367851.4:p.Ile385Arg
ENST00000465127.1:c.171+379008T>G ENSP00000417050.1:n.171+379008T>G
NM_000397.3:c.1154T>G , LRG_53t1:c.1154T>G NP_000388.2:p.Ile385Arg
XM_011543890.1:c.848T>G XP_011542192.1:p.Ile283Arg
NM_000397.4:c.1154T>G MANE Select NP_000388.2:p.Ile385Arg