Canonical Allele Identifier: CA515669086

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1160233
• ClinVar RCV Id: RCV001504290
• dbSNP Id: rs2146803145
• gnomAD v4: X-37782135-G-A
• MyVariant Identifiers: chrX:g.37641388G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37782135G>A , CM000685.2:g.37782135G>A	GRCh38
NC_000023.10:g.37641388G>A , CM000685.1:g.37641388G>A	GRCh37
NC_000023.9:g.37526332G>A	NCBI36
NG_009065.1:g.7119G>A , LRG_53:g.7119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.93G>A	ENSP00000512461.1:p.Arg31=
ENST00000696171.1:c.46-1355G>A	ENSP00000512462.1:n.46-1355G>A
ENST00000696172.1:c.93G>A	ENSP00000512463.1:p.Arg31=
ENST00000696173.1:n.101G>A
ENST00000378588.5:c.93G>A MANE Select	ENSP00000367851.4:p.Arg31=
ENST00000378588.4:c.93G>A	ENSP00000367851.4:p.Arg31=
ENST00000465127.1:c.171+356135G>A	ENSP00000417050.1:n.171+356135G>A
NM_000397.3:c.93G>A , LRG_53t1:c.93G>A	NP_000388.2:p.Arg31=
XM_011543890.1:c.-338G>A	XP_011542192.1:n.-338G>A
NM_000397.4:c.93G>A MANE Select	NP_000388.2:p.Arg31=