Canonical Allele Identifier: CA412976304

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2765307
• ClinVar RCV Id: RCV003510257
• MyVariant Identifiers: chrX:g.37655340A>G (hg19) ; chrX:g.37796087A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796087A>G , CM000685.2:g.37796087A>G	GRCh38
NC_000023.10:g.37655340A>G , CM000685.1:g.37655340A>G	GRCh37
NC_000023.9:g.37540280A>G	NCBI36
NG_009065.1:g.21067A>G , LRG_53:g.21067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*129A>G	ENSP00000512461.1:n.*129A>G
ENST00000696171.1:c.524A>G	ENSP00000512462.1:p.Tyr175Cys
ENST00000696172.1:c.338-2868A>G	ENSP00000512463.1:n.338-2868A>G
ENST00000378588.5:c.620A>G MANE Select	ENSP00000367851.4:p.Tyr207Cys
ENST00000378588.4:c.620A>G	ENSP00000367851.4:p.Tyr207Cys
ENST00000465127.1:c.171+370087A>G	ENSP00000417050.1:n.171+370087A>G
NM_000397.3:c.620A>G , LRG_53t1:c.620A>G	NP_000388.2:p.Tyr207Cys
XM_011543890.1:c.314A>G	XP_011542192.1:p.Tyr105Cys
NM_000397.4:c.620A>G MANE Select	NP_000388.2:p.Tyr207Cys