Canonical Allele Identifier: CA412977014
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803880G>T , CM000685.2:g.37803880G>T GRCh38
NC_000023.10:g.37663133G>T , CM000685.1:g.37663133G>T GRCh37
NC_000023.9:g.37548077G>T NCBI36
NG_009065.1:g.28864G>T , LRG_53:g.28864G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*410G>T ENSP00000512461.1:n.*410G>T
ENST00000696171.1:c.805G>T ENSP00000512462.1:p.Val269Phe
ENST00000378588.5:c.901G>T MANE Select ENSP00000367851.4:p.Val301Phe
ENST00000378588.4:c.901G>T ENSP00000367851.4:p.Val301Phe
ENST00000465127.1:c.171+377880G>T ENSP00000417050.1:n.171+377880G>T
ENST00000492288.1:n.326G>T
NM_000397.3:c.901G>T , LRG_53t1:c.901G>T NP_000388.2:p.Val301Phe
XM_011543890.1:c.595G>T XP_011542192.1:p.Val199Phe
NM_000397.4:c.901G>T MANE Select NP_000388.2:p.Val301Phe