Canonical Allele Identifier: CA10383765

Gene: CYBB

Linked Data

• dbSNP Id: rs782395780
• ExAC: X:37655342 A / G
• gnomAD v2: X-37655342-A-G
• gnomAD v4: X-37796089-A-G
• MyVariant Identifiers: chrX:g.37655342A>G (hg19) ; chrX:g.37796089A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796089A>G , CM000685.2:g.37796089A>G	GRCh38
NC_000023.10:g.37655342A>G , CM000685.1:g.37655342A>G	GRCh37
NC_000023.9:g.37540282A>G	NCBI36
NG_009065.1:g.21069A>G , LRG_53:g.21069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*131A>G	ENSP00000512461.1:n.*131A>G
ENST00000696171.1:c.526A>G	ENSP00000512462.1:p.Thr176Ala
ENST00000696172.1:c.338-2866A>G	ENSP00000512463.1:n.338-2866A>G
ENST00000378588.5:c.622A>G MANE Select	ENSP00000367851.4:p.Thr208Ala
ENST00000378588.4:c.622A>G	ENSP00000367851.4:p.Thr208Ala
ENST00000465127.1:c.171+370089A>G	ENSP00000417050.1:n.171+370089A>G
NM_000397.3:c.622A>G , LRG_53t1:c.622A>G	NP_000388.2:p.Thr208Ala
XM_011543890.1:c.316A>G	XP_011542192.1:p.Thr106Ala
NM_000397.4:c.622A>G MANE Select	NP_000388.2:p.Thr208Ala