Canonical Allele Identifier: CA2424681366
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37799024C= , CM000685.2:g.37799024C= GRCh38
NC_000023.10:g.37658277C= , CM000685.1:g.37658277C= GRCh37
NC_000023.9:g.37543217C= NCBI36
NG_009065.1:g.24004C= , LRG_53:g.24004C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*253C= ENSP00000512461.1:n.*253C=
ENST00000696171.1:c.648C= ENSP00000512462.1:p.Ile216=
ENST00000696172.1:c.*20C= ENSP00000512463.1:n.*20C=
ENST00000378588.5:c.744C= MANE Select ENSP00000367851.4:p.Ile248=
ENST00000378588.4:c.744C= ENSP00000367851.4:p.Ile248=
ENST00000465127.1:c.171+373024C= ENSP00000417050.1:n.171+373024C=
ENST00000492288.1:n.169C=
NM_000397.3:c.744C= , LRG_53t1:c.744C= NP_000388.2:p.Ile248=
XM_011543890.1:c.438C= XP_011542192.1:p.Ile146=
NM_000397.4:c.744C= MANE Select NP_000388.2:p.Ile248=