Canonical Allele Identifier: CA412976603

Gene: CYBB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*248A>C	ENSP00000512461.1:n.*248A>C
ENST00000696171.1:c.643A>C	ENSP00000512462.1:p.Lys215Gln
ENST00000696172.1:c.*15A>C	ENSP00000512463.1:n.*15A>C
ENST00000378588.5:c.739A>C MANE Select	ENSP00000367851.4:p.Lys247Gln
ENST00000378588.4:c.739A>C	ENSP00000367851.4:p.Lys247Gln
ENST00000465127.1:c.171+373019A>C	ENSP00000417050.1:n.171+373019A>C
ENST00000492288.1:n.164A>C
NM_000397.3:c.739A>C , LRG_53t1:c.739A>C	NP_000388.2:p.Lys247Gln
XM_011543890.1:c.433A>C	XP_011542192.1:p.Lys145Gln
NM_000397.4:c.739A>C MANE Select	NP_000388.2:p.Lys247Gln