Canonical Allele Identifier: CA412975936

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2737186
• ClinVar RCV Id: RCV003509047
• MyVariant Identifiers: chrX:g.37655256G>A (hg19) ; chrX:g.37796003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796003G>A , CM000685.2:g.37796003G>A	GRCh38
NC_000023.10:g.37655256G>A , CM000685.1:g.37655256G>A	GRCh37
NC_000023.9:g.37540196G>A	NCBI36
NG_009065.1:g.20983G>A , LRG_53:g.20983G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*45G>A	ENSP00000512461.1:n.*45G>A
ENST00000696171.1:c.440G>A	ENSP00000512462.1:p.Gly147Glu
ENST00000696172.1:c.338-2952G>A	ENSP00000512463.1:n.338-2952G>A
ENST00000378588.5:c.536G>A MANE Select	ENSP00000367851.4:p.Gly179Glu
ENST00000378588.4:c.536G>A	ENSP00000367851.4:p.Gly179Glu
ENST00000465127.1:c.171+370003G>A	ENSP00000417050.1:n.171+370003G>A
NM_000397.3:c.536G>A , LRG_53t1:c.536G>A	NP_000388.2:p.Gly179Glu
XM_011543890.1:c.230G>A	XP_011542192.1:p.Gly77Glu
NM_000397.4:c.536G>A MANE Select	NP_000388.2:p.Gly179Glu