Canonical Allele Identifier: CA219732

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68400
• ClinVar RCV Id: RCV000059267
• dbSNP Id: rs151344459
• MyVariant Identifiers: chrX:g.37655347T>A (hg19) ; chrX:g.37796094T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796094T>A , CM000685.2:g.37796094T>A	GRCh38
NC_000023.10:g.37655347T>A , CM000685.1:g.37655347T>A	GRCh37
NC_000023.9:g.37540287T>A	NCBI36
NG_009065.1:g.21074T>A , LRG_53:g.21074T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*136T>A	ENSP00000512461.1:n.*136T>A
ENST00000696171.1:c.531T>A	ENSP00000512462.1:p.His177Gln
ENST00000696172.1:c.338-2861T>A	ENSP00000512463.1:n.338-2861T>A
ENST00000378588.5:c.627T>A MANE Select	ENSP00000367851.4:p.His209Gln
ENST00000378588.4:c.627T>A	ENSP00000367851.4:p.His209Gln
ENST00000465127.1:c.171+370094T>A	ENSP00000417050.1:n.171+370094T>A
NM_000397.3:c.627T>A , LRG_53t1:c.627T>A	NP_000388.2:p.His209Gln
XM_011543890.1:c.321T>A	XP_011542192.1:p.His107Gln
NM_000397.4:c.627T>A MANE Select	NP_000388.2:p.His209Gln