Canonical Allele Identifier: CA10383784

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37798978C>T , CM000685.2:g.37798978C>T	GRCh38
NC_000023.10:g.37658231C>T , CM000685.1:g.37658231C>T	GRCh37
NC_000023.9:g.37543171C>T	NCBI36
NG_009065.1:g.23958C>T , LRG_53:g.23958C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000397.4:c.698C>T MANE Select	NP_000388.2:p.Ala233Val
ENST00000378588.5:c.698C>T MANE Select	ENSP00000367851.4:p.Ala233Val
NM_000397.3:c.698C>T , LRG_53t1:c.698C>T	NP_000388.2:p.Ala233Val
ENST00000378588.4:c.698C>T	ENSP00000367851.4:p.Ala233Val
ENST00000465127.1:c.171+372978C>T	ENSP00000417050.1:n.171+372978C>T
ENST00000492288.1:n.123C>T
ENST00000696170.1:c.*207C>T	ENSP00000512461.1:n.*207C>T
ENST00000696171.1:c.602C>T	ENSP00000512462.1:p.Ala201Val
ENST00000696172.1:c.361C>T	ENSP00000512463.1:p.Gln121Ter
XM_011543890.1:c.392C>T	XP_011542192.1:p.Ala131Val