Canonical Allele Identifier: CA412977333

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663274G>A (hg19) ; chrX:g.37804021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804021G>A , CM000685.2:g.37804021G>A	GRCh38
NC_000023.10:g.37663274G>A , CM000685.1:g.37663274G>A	GRCh37
NC_000023.9:g.37548218G>A	NCBI36
NG_009065.1:g.29005G>A , LRG_53:g.29005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*551G>A	ENSP00000512461.1:n.*551G>A
ENST00000696171.1:c.946G>A	ENSP00000512462.1:p.Glu316Lys
ENST00000378588.5:c.1042G>A MANE Select	ENSP00000367851.4:p.Glu348Lys
ENST00000378588.4:c.1042G>A	ENSP00000367851.4:p.Glu348Lys
ENST00000465127.1:c.171+378021G>A	ENSP00000417050.1:n.171+378021G>A
ENST00000492288.1:n.467G>A
NM_000397.3:c.1042G>A , LRG_53t1:c.1042G>A	NP_000388.2:p.Glu348Lys
XM_011543890.1:c.736G>A	XP_011542192.1:p.Glu246Lys
NM_000397.4:c.1042G>A MANE Select	NP_000388.2:p.Glu348Lys