Canonical Allele Identifier: CA412977282
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803995C>T , CM000685.2:g.37803995C>T GRCh38
NC_000023.10:g.37663248C>T , CM000685.1:g.37663248C>T GRCh37
NC_000023.9:g.37548192C>T NCBI36
NG_009065.1:g.28979C>T , LRG_53:g.28979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*525C>T ENSP00000512461.1:n.*525C>T
ENST00000696171.1:c.920C>T ENSP00000512462.1:p.Pro307Leu
ENST00000378588.5:c.1016C>T MANE Select ENSP00000367851.4:p.Pro339Leu
ENST00000378588.4:c.1016C>T ENSP00000367851.4:p.Pro339Leu
ENST00000465127.1:c.171+377995C>T ENSP00000417050.1:n.171+377995C>T
ENST00000492288.1:n.441C>T
NM_000397.3:c.1016C>T , LRG_53t1:c.1016C>T NP_000388.2:p.Pro339Leu
XM_011543890.1:c.710C>T XP_011542192.1:p.Pro237Leu
NM_000397.4:c.1016C>T MANE Select NP_000388.2:p.Pro339Leu