Canonical Allele Identifier: CA412975858

Gene: CYBB

Linked Data

• dbSNP Id: rs1556468323
• gnomAD v2: X-37655235-C-A
• gnomAD v4: X-37795982-C-A
• MyVariant Identifiers: chrX:g.37655235C>A (hg19) ; chrX:g.37795982C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795982C>A , CM000685.2:g.37795982C>A	GRCh38
NC_000023.10:g.37655235C>A , CM000685.1:g.37655235C>A	GRCh37
NC_000023.9:g.37540175C>A	NCBI36
NG_009065.1:g.20962C>A , LRG_53:g.20962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*24C>A	ENSP00000512461.1:n.*24C>A
ENST00000696171.1:c.419C>A	ENSP00000512462.1:p.Thr140Asn
ENST00000696172.1:c.338-2973C>A	ENSP00000512463.1:n.338-2973C>A
ENST00000378588.5:c.515C>A MANE Select	ENSP00000367851.4:p.Thr172Asn
ENST00000378588.4:c.515C>A	ENSP00000367851.4:p.Thr172Asn
ENST00000465127.1:c.171+369982C>A	ENSP00000417050.1:n.171+369982C>A
NM_000397.3:c.515C>A , LRG_53t1:c.515C>A	NP_000388.2:p.Thr172Asn
XM_011543890.1:c.209C>A	XP_011542192.1:p.Thr70Asn
NM_000397.4:c.515C>A MANE Select	NP_000388.2:p.Thr172Asn