Canonical Allele Identifier: CA412977145
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803936G>T , CM000685.2:g.37803936G>T GRCh38
NC_000023.10:g.37663189G>T , CM000685.1:g.37663189G>T GRCh37
NC_000023.9:g.37548133G>T NCBI36
NG_009065.1:g.28920G>T , LRG_53:g.28920G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*466G>T ENSP00000512461.1:n.*466G>T
ENST00000696171.1:c.861G>T ENSP00000512462.1:p.Met287Ile
ENST00000378588.5:c.957G>T MANE Select ENSP00000367851.4:p.Met319Ile
ENST00000378588.4:c.957G>T ENSP00000367851.4:p.Met319Ile
ENST00000465127.1:c.171+377936G>T ENSP00000417050.1:n.171+377936G>T
ENST00000492288.1:n.382G>T
NM_000397.3:c.957G>T , LRG_53t1:c.957G>T NP_000388.2:p.Met319Ile
XM_011543890.1:c.651G>T XP_011542192.1:p.Met217Ile
NM_000397.4:c.957G>T MANE Select NP_000388.2:p.Met319Ile