Canonical Allele Identifier: CA412975760

Gene: CYBB

Linked Data

• gnomAD v4: X-37795957-G-A
• MyVariant Identifiers: chrX:g.37655210G>A (hg19) ; chrX:g.37795957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795957G>A , CM000685.2:g.37795957G>A	GRCh38
NC_000023.10:g.37655210G>A , CM000685.1:g.37655210G>A	GRCh37
NC_000023.9:g.37540150G>A	NCBI36
NG_009065.1:g.20937G>A , LRG_53:g.20937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.344G>A	ENSP00000512461.1:p.Ter115=
ENST00000696171.1:c.394G>A	ENSP00000512462.1:p.Glu132Lys
ENST00000696172.1:c.338-2998G>A	ENSP00000512463.1:n.338-2998G>A
ENST00000378588.5:c.490G>A MANE Select	ENSP00000367851.4:p.Glu164Lys
ENST00000378588.4:c.490G>A	ENSP00000367851.4:p.Glu164Lys
ENST00000465127.1:c.171+369957G>A	ENSP00000417050.1:n.171+369957G>A
NM_000397.3:c.490G>A , LRG_53t1:c.490G>A	NP_000388.2:p.Glu164Lys
XM_011543890.1:c.184G>A	XP_011542192.1:p.Glu62Lys
NM_000397.4:c.490G>A MANE Select	NP_000388.2:p.Glu164Lys