Canonical Allele Identifier: CA412976605

Gene: CYBB

Linked Data

• COSMIC: COSM234222
• MyVariant Identifiers: chrX:g.37658272A>T (hg19) ; chrX:g.37799019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799019A>T , CM000685.2:g.37799019A>T	GRCh38
NC_000023.10:g.37658272A>T , CM000685.1:g.37658272A>T	GRCh37
NC_000023.9:g.37543212A>T	NCBI36
NG_009065.1:g.23999A>T , LRG_53:g.23999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*248A>T	ENSP00000512461.1:n.*248A>T
ENST00000696171.1:c.643A>T	ENSP00000512462.1:p.Lys215Ter
ENST00000696172.1:c.*15A>T	ENSP00000512463.1:n.*15A>T
ENST00000378588.5:c.739A>T MANE Select	ENSP00000367851.4:p.Lys247Ter
ENST00000378588.4:c.739A>T	ENSP00000367851.4:p.Lys247Ter
ENST00000465127.1:c.171+373019A>T	ENSP00000417050.1:n.171+373019A>T
ENST00000492288.1:n.164A>T
NM_000397.3:c.739A>T , LRG_53t1:c.739A>T	NP_000388.2:p.Lys247Ter
XM_011543890.1:c.433A>T	XP_011542192.1:p.Lys145Ter
NM_000397.4:c.739A>T MANE Select	NP_000388.2:p.Lys247Ter