Canonical Allele Identifier: CA412975822
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795972C>A , CM000685.2:g.37795972C>A GRCh38
NC_000023.10:g.37655225C>A , CM000685.1:g.37655225C>A GRCh37
NC_000023.9:g.37540165C>A NCBI36
NG_009065.1:g.20952C>A , LRG_53:g.20952C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*14C>A ENSP00000512461.1:n.*14C>A
ENST00000696171.1:c.409C>A ENSP00000512462.1:p.Leu137Met
ENST00000696172.1:c.338-2983C>A ENSP00000512463.1:n.338-2983C>A
ENST00000378588.5:c.505C>A MANE Select ENSP00000367851.4:p.Leu169Met
ENST00000378588.4:c.505C>A ENSP00000367851.4:p.Leu169Met
ENST00000465127.1:c.171+369972C>A ENSP00000417050.1:n.171+369972C>A
NM_000397.3:c.505C>A , LRG_53t1:c.505C>A NP_000388.2:p.Leu169Met
XM_011543890.1:c.199C>A XP_011542192.1:p.Leu67Met
NM_000397.4:c.505C>A MANE Select NP_000388.2:p.Leu169Met