Canonical Allele Identifier: CA10383824

Gene: CYBB

Linked Data

• dbSNP Id: rs782623269
• ExAC: X:37663273 G / A
• gnomAD v2: X-37663273-G-A
• gnomAD v4: X-37804020-G-A
• MyVariant Identifiers: chrX:g.37663273G>A (hg19) ; chrX:g.37804020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804020G>A , CM000685.2:g.37804020G>A	GRCh38
NC_000023.10:g.37663273G>A , CM000685.1:g.37663273G>A	GRCh37
NC_000023.9:g.37548217G>A	NCBI36
NG_009065.1:g.29004G>A , LRG_53:g.29004G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*550G>A	ENSP00000512461.1:n.*550G>A
ENST00000696171.1:c.945G>A	ENSP00000512462.1:p.Glu315=
ENST00000378588.5:c.1041G>A MANE Select	ENSP00000367851.4:p.Glu347=
ENST00000378588.4:c.1041G>A	ENSP00000367851.4:p.Glu347=
ENST00000465127.1:c.171+378020G>A	ENSP00000417050.1:n.171+378020G>A
ENST00000492288.1:n.466G>A
NM_000397.3:c.1041G>A , LRG_53t1:c.1041G>A	NP_000388.2:p.Glu347=
XM_011543890.1:c.735G>A	XP_011542192.1:p.Glu245=
NM_000397.4:c.1041G>A MANE Select	NP_000388.2:p.Glu347=