Canonical Allele Identifier: CA412976083
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796037C>G , CM000685.2:g.37796037C>G GRCh38
NC_000023.10:g.37655290C>G , CM000685.1:g.37655290C>G GRCh37
NC_000023.9:g.37540230C>G NCBI36
NG_009065.1:g.21017C>G , LRG_53:g.21017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*79C>G ENSP00000512461.1:n.*79C>G
ENST00000696171.1:c.474C>G ENSP00000512462.1:p.Ile158Met
ENST00000696172.1:c.338-2918C>G ENSP00000512463.1:n.338-2918C>G
ENST00000378588.5:c.570C>G MANE Select ENSP00000367851.4:p.Ile190Met
ENST00000378588.4:c.570C>G ENSP00000367851.4:p.Ile190Met
ENST00000465127.1:c.171+370037C>G ENSP00000417050.1:n.171+370037C>G
NM_000397.3:c.570C>G , LRG_53t1:c.570C>G NP_000388.2:p.Ile190Met
XM_011543890.1:c.264C>G XP_011542192.1:p.Ile88Met
NM_000397.4:c.570C>G MANE Select NP_000388.2:p.Ile190Met