Canonical Allele Identifier: CA412976195
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796064G>T , CM000685.2:g.37796064G>T GRCh38
NC_000023.10:g.37655317G>T , CM000685.1:g.37655317G>T GRCh37
NC_000023.9:g.37540257G>T NCBI36
NG_009065.1:g.21044G>T , LRG_53:g.21044G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*106G>T ENSP00000512461.1:n.*106G>T
ENST00000696171.1:c.501G>T ENSP00000512462.1:p.Arg167Ser
ENST00000696172.1:c.338-2891G>T ENSP00000512463.1:n.338-2891G>T
ENST00000378588.5:c.597G>T MANE Select ENSP00000367851.4:p.Arg199Ser
ENST00000378588.4:c.597G>T ENSP00000367851.4:p.Arg199Ser
ENST00000465127.1:c.171+370064G>T ENSP00000417050.1:n.171+370064G>T
NM_000397.3:c.597G>T , LRG_53t1:c.597G>T NP_000388.2:p.Arg199Ser
XM_011543890.1:c.291G>T XP_011542192.1:p.Arg97Ser
NM_000397.4:c.597G>T MANE Select NP_000388.2:p.Arg199Ser