Canonical Allele Identifier: CA412977238
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803976T>G , CM000685.2:g.37803976T>G GRCh38
NC_000023.10:g.37663229T>G , CM000685.1:g.37663229T>G GRCh37
NC_000023.9:g.37548173T>G NCBI36
NG_009065.1:g.28960T>G , LRG_53:g.28960T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*506T>G ENSP00000512461.1:n.*506T>G
ENST00000696171.1:c.901T>G ENSP00000512462.1:p.Ser301Ala
ENST00000378588.5:c.997T>G MANE Select ENSP00000367851.4:p.Ser333Ala
ENST00000378588.4:c.997T>G ENSP00000367851.4:p.Ser333Ala
ENST00000465127.1:c.171+377976T>G ENSP00000417050.1:n.171+377976T>G
ENST00000492288.1:n.422T>G
NM_000397.3:c.997T>G , LRG_53t1:c.997T>G NP_000388.2:p.Ser333Ala
XM_011543890.1:c.691T>G XP_011542192.1:p.Ser231Ala
NM_000397.4:c.997T>G MANE Select NP_000388.2:p.Ser333Ala