Canonical Allele Identifier: CA412972725
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783506C>T , CM000685.2:g.37783506C>T GRCh38
NC_000023.10:g.37642759C>T , CM000685.1:g.37642759C>T GRCh37
NC_000023.9:g.37527703C>T NCBI36
NG_009065.1:g.8490C>T , LRG_53:g.8490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.158C>T ENSP00000512461.1:p.Ala53Val
ENST00000696171.1:c.62C>T ENSP00000512462.1:p.Ala21Val
ENST00000696172.1:c.158C>T ENSP00000512463.1:p.Ala53Val
ENST00000696173.1:n.166C>T
ENST00000378588.5:c.158C>T MANE Select ENSP00000367851.4:p.Ala53Val
ENST00000378588.4:c.158C>T ENSP00000367851.4:p.Ala53Val
ENST00000465127.1:c.171+357506C>T ENSP00000417050.1:n.171+357506C>T
NM_000397.3:c.158C>T , LRG_53t1:c.158C>T NP_000388.2:p.Ala53Val
XM_011543890.1:c.-273C>T XP_011542192.1:n.-273C>T
NM_000397.4:c.158C>T MANE Select NP_000388.2:p.Ala53Val