Canonical Allele Identifier: CA412976185
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796062A>T , CM000685.2:g.37796062A>T GRCh38
NC_000023.10:g.37655315A>T , CM000685.1:g.37655315A>T GRCh37
NC_000023.9:g.37540255A>T NCBI36
NG_009065.1:g.21042A>T , LRG_53:g.21042A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*104A>T ENSP00000512461.1:n.*104A>T
ENST00000696171.1:c.499A>T ENSP00000512462.1:p.Arg167Trp
ENST00000696172.1:c.338-2893A>T ENSP00000512463.1:n.338-2893A>T
ENST00000378588.5:c.595A>T MANE Select ENSP00000367851.4:p.Arg199Trp
ENST00000378588.4:c.595A>T ENSP00000367851.4:p.Arg199Trp
ENST00000465127.1:c.171+370062A>T ENSP00000417050.1:n.171+370062A>T
NM_000397.3:c.595A>T , LRG_53t1:c.595A>T NP_000388.2:p.Arg199Trp
XM_011543890.1:c.289A>T XP_011542192.1:p.Arg97Trp
NM_000397.4:c.595A>T MANE Select NP_000388.2:p.Arg199Trp