Canonical Allele Identifier: CA412972781
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783534C>G , CM000685.2:g.37783534C>G GRCh38
NC_000023.10:g.37642787C>G , CM000685.1:g.37642787C>G GRCh37
NC_000023.9:g.37527731C>G NCBI36
NG_009065.1:g.8518C>G , LRG_53:g.8518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.186C>G ENSP00000512461.1:p.Phe62Leu
ENST00000696171.1:c.90C>G ENSP00000512462.1:p.Phe30Leu
ENST00000696172.1:c.186C>G ENSP00000512463.1:p.Phe62Leu
ENST00000696173.1:n.194C>G
ENST00000378588.5:c.186C>G MANE Select ENSP00000367851.4:p.Phe62Leu
ENST00000378588.4:c.186C>G ENSP00000367851.4:p.Phe62Leu
ENST00000465127.1:c.171+357534C>G ENSP00000417050.1:n.171+357534C>G
NM_000397.3:c.186C>G , LRG_53t1:c.186C>G NP_000388.2:p.Phe62Leu
XM_011543890.1:c.-245C>G XP_011542192.1:n.-245C>G
NM_000397.4:c.186C>G MANE Select NP_000388.2:p.Phe62Leu