Canonical Allele Identifier: CA412975774
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795959A>C , CM000685.2:g.37795959A>C GRCh38
NC_000023.10:g.37655212A>C , CM000685.1:g.37655212A>C GRCh37
NC_000023.9:g.37540152A>C NCBI36
NG_009065.1:g.20939A>C , LRG_53:g.20939A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*1A>C ENSP00000512461.1:n.*1A>C
ENST00000696171.1:c.396A>C ENSP00000512462.1:p.Glu132Asp
ENST00000696172.1:c.338-2996A>C ENSP00000512463.1:n.338-2996A>C
ENST00000378588.5:c.492A>C MANE Select ENSP00000367851.4:p.Glu164Asp
ENST00000378588.4:c.492A>C ENSP00000367851.4:p.Glu164Asp
ENST00000465127.1:c.171+369959A>C ENSP00000417050.1:n.171+369959A>C
NM_000397.3:c.492A>C , LRG_53t1:c.492A>C NP_000388.2:p.Glu164Asp
XM_011543890.1:c.186A>C XP_011542192.1:p.Glu62Asp
NM_000397.4:c.492A>C MANE Select NP_000388.2:p.Glu164Asp