Canonical Allele Identifier: CA412976383
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796107A>C , CM000685.2:g.37796107A>C GRCh38
NC_000023.10:g.37655360A>C , CM000685.1:g.37655360A>C GRCh37
NC_000023.9:g.37540300A>C NCBI36
NG_009065.1:g.21087A>C , LRG_53:g.21087A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*149A>C ENSP00000512461.1:n.*149A>C
ENST00000696171.1:c.544A>C ENSP00000512462.1:p.Ile182Leu
ENST00000696172.1:c.338-2848A>C ENSP00000512463.1:n.338-2848A>C
ENST00000378588.5:c.640A>C MANE Select ENSP00000367851.4:p.Ile214Leu
ENST00000378588.4:c.640A>C ENSP00000367851.4:p.Ile214Leu
ENST00000465127.1:c.171+370107A>C ENSP00000417050.1:n.171+370107A>C
NM_000397.3:c.640A>C , LRG_53t1:c.640A>C NP_000388.2:p.Ile214Leu
XM_011543890.1:c.334A>C XP_011542192.1:p.Ile112Leu
NM_000397.4:c.640A>C MANE Select NP_000388.2:p.Ile214Leu