Canonical Allele Identifier: CA412977673
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805038G>T , CM000685.2:g.37805038G>T GRCh38
NC_000023.10:g.37664291G>T , CM000685.1:g.37664291G>T GRCh37
NC_000023.9:g.37549235G>T NCBI36
NG_009065.1:g.30022G>T , LRG_53:g.30022G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*693G>T ENSP00000512461.1:n.*693G>T
ENST00000696171.1:c.1088G>T ENSP00000512462.1:p.Ser363Ile
ENST00000378588.5:c.1184G>T MANE Select ENSP00000367851.4:p.Ser395Ile
ENST00000378588.4:c.1184G>T ENSP00000367851.4:p.Ser395Ile
ENST00000465127.1:c.171+379038G>T ENSP00000417050.1:n.171+379038G>T
NM_000397.3:c.1184G>T , LRG_53t1:c.1184G>T NP_000388.2:p.Ser395Ile
XM_011543890.1:c.878G>T XP_011542192.1:p.Ser293Ile
NM_000397.4:c.1184G>T MANE Select NP_000388.2:p.Ser395Ile