Canonical Allele Identifier: CA412977325
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804018G>C , CM000685.2:g.37804018G>C GRCh38
NC_000023.10:g.37663271G>C , CM000685.1:g.37663271G>C GRCh37
NC_000023.9:g.37548215G>C NCBI36
NG_009065.1:g.29002G>C , LRG_53:g.29002G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*548G>C ENSP00000512461.1:n.*548G>C
ENST00000696171.1:c.943G>C ENSP00000512462.1:p.Glu315Gln
ENST00000378588.5:c.1039G>C MANE Select ENSP00000367851.4:p.Glu347Gln
ENST00000378588.4:c.1039G>C ENSP00000367851.4:p.Glu347Gln
ENST00000465127.1:c.171+378018G>C ENSP00000417050.1:n.171+378018G>C
ENST00000492288.1:n.464G>C
NM_000397.3:c.1039G>C , LRG_53t1:c.1039G>C NP_000388.2:p.Glu347Gln
XM_011543890.1:c.733G>C XP_011542192.1:p.Glu245Gln
NM_000397.4:c.1039G>C MANE Select NP_000388.2:p.Glu347Gln