Canonical Allele Identifier: CA412977030

Gene: CYBB

Linked Data

• gnomAD v4: X-37803888-C-A
• MyVariant Identifiers: chrX:g.37663141C>A (hg19) ; chrX:g.37803888C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803888C>A , CM000685.2:g.37803888C>A	GRCh38
NC_000023.10:g.37663141C>A , CM000685.1:g.37663141C>A	GRCh37
NC_000023.9:g.37548085C>A	NCBI36
NG_009065.1:g.28872C>A , LRG_53:g.28872C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*418C>A	ENSP00000512461.1:n.*418C>A
ENST00000696171.1:c.813C>A	ENSP00000512462.1:p.His271Gln
ENST00000378588.5:c.909C>A MANE Select	ENSP00000367851.4:p.His303Gln
ENST00000378588.4:c.909C>A	ENSP00000367851.4:p.His303Gln
ENST00000465127.1:c.171+377888C>A	ENSP00000417050.1:n.171+377888C>A
ENST00000492288.1:n.334C>A
NM_000397.3:c.909C>A , LRG_53t1:c.909C>A	NP_000388.2:p.His303Gln
XM_011543890.1:c.603C>A	XP_011542192.1:p.His201Gln
NM_000397.4:c.909C>A MANE Select	NP_000388.2:p.His303Gln