Canonical Allele Identifier: CA412977779
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805086T>A , CM000685.2:g.37805086T>A GRCh38
NC_000023.10:g.37664339T>A , CM000685.1:g.37664339T>A GRCh37
NC_000023.9:g.37549283T>A NCBI36
NG_009065.1:g.30070T>A , LRG_53:g.30070T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*741T>A ENSP00000512461.1:n.*741T>A
ENST00000696171.1:c.1136T>A ENSP00000512462.1:p.Ile379Asn
ENST00000378588.5:c.1232T>A MANE Select ENSP00000367851.4:p.Ile411Asn
ENST00000378588.4:c.1232T>A ENSP00000367851.4:p.Ile411Asn
ENST00000465127.1:c.171+379086T>A ENSP00000417050.1:n.171+379086T>A
NM_000397.3:c.1232T>A , LRG_53t1:c.1232T>A NP_000388.2:p.Ile411Asn
XM_011543890.1:c.926T>A XP_011542192.1:p.Ile309Asn
NM_000397.4:c.1232T>A MANE Select NP_000388.2:p.Ile411Asn