Canonical Allele Identifier: CA412976280
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796082T>G , CM000685.2:g.37796082T>G GRCh38
NC_000023.10:g.37655335T>G , CM000685.1:g.37655335T>G GRCh37
NC_000023.9:g.37540275T>G NCBI36
NG_009065.1:g.21062T>G , LRG_53:g.21062T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*124T>G ENSP00000512461.1:n.*124T>G
ENST00000696171.1:c.519T>G ENSP00000512462.1:p.Phe173Leu
ENST00000696172.1:c.338-2873T>G ENSP00000512463.1:n.338-2873T>G
ENST00000378588.5:c.615T>G MANE Select ENSP00000367851.4:p.Phe205Leu
ENST00000378588.4:c.615T>G ENSP00000367851.4:p.Phe205Leu
ENST00000465127.1:c.171+370082T>G ENSP00000417050.1:n.171+370082T>G
NM_000397.3:c.615T>G , LRG_53t1:c.615T>G NP_000388.2:p.Phe205Leu
XM_011543890.1:c.309T>G XP_011542192.1:p.Phe103Leu
NM_000397.4:c.615T>G MANE Select NP_000388.2:p.Phe205Leu