Canonical Allele Identifier: CA412976442
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796134G>C , CM000685.2:g.37796134G>C GRCh38
NC_000023.10:g.37655387G>C , CM000685.1:g.37655387G>C GRCh37
NC_000023.9:g.37540327G>C NCBI36
NG_009065.1:g.21114G>C , LRG_53:g.21114G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*176G>C ENSP00000512461.1:n.*176G>C
ENST00000696171.1:c.571G>C ENSP00000512462.1:p.Gly191Arg
ENST00000696172.1:c.338-2821G>C ENSP00000512463.1:n.338-2821G>C
ENST00000378588.5:c.667G>C MANE Select ENSP00000367851.4:p.Gly223Arg
ENST00000378588.4:c.667G>C ENSP00000367851.4:p.Gly223Arg
ENST00000465127.1:c.171+370134G>C ENSP00000417050.1:n.171+370134G>C
NM_000397.3:c.667G>C , LRG_53t1:c.667G>C NP_000388.2:p.Gly223Arg
XM_011543890.1:c.361G>C XP_011542192.1:p.Gly121Arg
NM_000397.4:c.667G>C MANE Select NP_000388.2:p.Gly223Arg