Canonical Allele Identifier: CA412976015
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796023C>G , CM000685.2:g.37796023C>G GRCh38
NC_000023.10:g.37655276C>G , CM000685.1:g.37655276C>G GRCh37
NC_000023.9:g.37540216C>G NCBI36
NG_009065.1:g.21003C>G , LRG_53:g.21003C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*65C>G ENSP00000512461.1:n.*65C>G
ENST00000696171.1:c.460C>G ENSP00000512462.1:p.Leu154Val
ENST00000696172.1:c.338-2932C>G ENSP00000512463.1:n.338-2932C>G
ENST00000378588.5:c.556C>G MANE Select ENSP00000367851.4:p.Leu186Val
ENST00000378588.4:c.556C>G ENSP00000367851.4:p.Leu186Val
ENST00000465127.1:c.171+370023C>G ENSP00000417050.1:n.171+370023C>G
NM_000397.3:c.556C>G , LRG_53t1:c.556C>G NP_000388.2:p.Leu186Val
XM_011543890.1:c.250C>G XP_011542192.1:p.Leu84Val
NM_000397.4:c.556C>G MANE Select NP_000388.2:p.Leu186Val