Canonical Allele Identifier: CA2424680391
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795986G= , CM000685.2:g.37795986G= GRCh38
NC_000023.10:g.37655239G= , CM000685.1:g.37655239G= GRCh37
NC_000023.9:g.37540179G= NCBI36
NG_009065.1:g.20966G= , LRG_53:g.20966G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*28G= ENSP00000512461.1:n.*28G=
ENST00000696171.1:c.423G= ENSP00000512462.1:p.Leu141=
ENST00000696172.1:c.338-2969G= ENSP00000512463.1:n.338-2969G=
ENST00000378588.5:c.519G= MANE Select ENSP00000367851.4:p.Leu173=
ENST00000378588.4:c.519G= ENSP00000367851.4:p.Leu173=
ENST00000465127.1:c.171+369986G= ENSP00000417050.1:n.171+369986G=
NM_000397.3:c.519G= , LRG_53t1:c.519G= NP_000388.2:p.Leu173=
XM_011543890.1:c.213G= XP_011542192.1:p.Leu71=
NM_000397.4:c.519G= MANE Select NP_000388.2:p.Leu173=