Canonical Allele Identifier: CA2424680446
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796138C= , CM000685.2:g.37796138C= GRCh38
NC_000023.10:g.37655391C= , CM000685.1:g.37655391C= GRCh37
NC_000023.9:g.37540331C= NCBI36
NG_009065.1:g.21118C= , LRG_53:g.21118C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*180C= ENSP00000512461.1:n.*180C=
ENST00000696171.1:c.575C= ENSP00000512462.1:p.Ala192=
ENST00000696172.1:c.338-2817C= ENSP00000512463.1:n.338-2817C=
ENST00000378588.5:c.671C= MANE Select ENSP00000367851.4:p.Ala224=
ENST00000378588.4:c.671C= ENSP00000367851.4:p.Ala224=
ENST00000465127.1:c.171+370138C= ENSP00000417050.1:n.171+370138C=
NM_000397.3:c.671C= , LRG_53t1:c.671C= NP_000388.2:p.Ala224=
XM_011543890.1:c.365C= XP_011542192.1:p.Ala122=
NM_000397.4:c.671C= MANE Select NP_000388.2:p.Ala224=