Canonical Allele Identifier: CA412972848
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783564T>A , CM000685.2:g.37783564T>A GRCh38
NC_000023.10:g.37642817T>A , CM000685.1:g.37642817T>A GRCh37
NC_000023.9:g.37527761T>A NCBI36
NG_009065.1:g.8548T>A , LRG_53:g.8548T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.216T>A ENSP00000512461.1:p.Cys72Ter
ENST00000696171.1:c.120T>A ENSP00000512462.1:p.Cys40Ter
ENST00000696172.1:c.216T>A ENSP00000512463.1:p.Cys72Ter
ENST00000696173.1:n.224T>A
ENST00000378588.5:c.216T>A MANE Select ENSP00000367851.4:p.Cys72Ter
ENST00000378588.4:c.216T>A ENSP00000367851.4:p.Cys72Ter
ENST00000465127.1:c.171+357564T>A ENSP00000417050.1:n.171+357564T>A
NM_000397.3:c.216T>A , LRG_53t1:c.216T>A NP_000388.2:p.Cys72Ter
XM_011543890.1:c.-215T>A XP_011542192.1:n.-215T>A
NM_000397.4:c.216T>A MANE Select NP_000388.2:p.Cys72Ter