Canonical Allele Identifier: CA412977089

Gene: CYBB

Linked Data

• dbSNP Id: rs1175659583
• gnomAD v3: X-37803915-G-A
• gnomAD v4: X-37803915-G-A
• MyVariant Identifiers: chrX:g.37663168G>A (hg19) ; chrX:g.37803915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803915G>A , CM000685.2:g.37803915G>A	GRCh38
NC_000023.10:g.37663168G>A , CM000685.1:g.37663168G>A	GRCh37
NC_000023.9:g.37548112G>A	NCBI36
NG_009065.1:g.28899G>A , LRG_53:g.28899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*445G>A	ENSP00000512461.1:n.*445G>A
ENST00000696171.1:c.840G>A	ENSP00000512462.1:p.Met280Ile
ENST00000378588.5:c.936G>A MANE Select	ENSP00000367851.4:p.Met312Ile
ENST00000378588.4:c.936G>A	ENSP00000367851.4:p.Met312Ile
ENST00000465127.1:c.171+377915G>A	ENSP00000417050.1:n.171+377915G>A
ENST00000492288.1:n.361G>A
NM_000397.3:c.936G>A , LRG_53t1:c.936G>A	NP_000388.2:p.Met312Ile
XM_011543890.1:c.630G>A	XP_011542192.1:p.Met210Ile
NM_000397.4:c.936G>A MANE Select	NP_000388.2:p.Met312Ile