Canonical Allele Identifier: CA412977787
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805089G>C , CM000685.2:g.37805089G>C GRCh38
NC_000023.10:g.37664342G>C , CM000685.1:g.37664342G>C GRCh37
NC_000023.9:g.37549286G>C NCBI36
NG_009065.1:g.30073G>C , LRG_53:g.30073G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*744G>C ENSP00000512461.1:n.*744G>C
ENST00000696171.1:c.1139G>C ENSP00000512462.1:p.Gly380Ala
ENST00000378588.5:c.1235G>C MANE Select ENSP00000367851.4:p.Gly412Ala
ENST00000378588.4:c.1235G>C ENSP00000367851.4:p.Gly412Ala
ENST00000465127.1:c.171+379089G>C ENSP00000417050.1:n.171+379089G>C
NM_000397.3:c.1235G>C , LRG_53t1:c.1235G>C NP_000388.2:p.Gly412Ala
XM_011543890.1:c.929G>C XP_011542192.1:p.Gly310Ala
NM_000397.4:c.1235G>C MANE Select NP_000388.2:p.Gly412Ala