Canonical Allele Identifier: CA213638

Gene: CYBB

Linked Data

• ClinVar Variation Id: 35975
• ClinVar RCV Id: RCV000029631 ; RCV000596479 ; RCV003974856
• dbSNP Id: rs35080474
• ExAC: X:37655374 C / A
• gnomAD v2: X-37655374-C-A
• gnomAD v3: X-37796121-C-A
• gnomAD v4: X-37796121-C-A
• MyVariant Identifiers: chrX:g.37655374C>A (hg19) ; chrX:g.37796121C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796121C>A , CM000685.2:g.37796121C>A	GRCh38
NC_000023.10:g.37655374C>A , CM000685.1:g.37655374C>A	GRCh37
NC_000023.9:g.37540314C>A	NCBI36
NG_009065.1:g.21101C>A , LRG_53:g.21101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*163C>A	ENSP00000512461.1:n.*163C>A
ENST00000696171.1:c.558C>A	ENSP00000512462.1:p.Gly186=
ENST00000696172.1:c.338-2834C>A	ENSP00000512463.1:n.338-2834C>A
ENST00000378588.5:c.654C>A MANE Select	ENSP00000367851.4:p.Gly218=
ENST00000378588.4:c.654C>A	ENSP00000367851.4:p.Gly218=
ENST00000465127.1:c.171+370121C>A	ENSP00000417050.1:n.171+370121C>A
NM_000397.3:c.654C>A , LRG_53t1:c.654C>A	NP_000388.2:p.Gly218=
XM_011543890.1:c.348C>A	XP_011542192.1:p.Gly116=
NM_000397.4:c.654C>A MANE Select	NP_000388.2:p.Gly218=