Canonical Allele Identifier: CA412977088

Gene: CYBB

Linked Data

• gnomAD v4: X-37803914-T-G
• MyVariant Identifiers: chrX:g.37663167T>G (hg19) ; chrX:g.37803914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803914T>G , CM000685.2:g.37803914T>G	GRCh38
NC_000023.10:g.37663167T>G , CM000685.1:g.37663167T>G	GRCh37
NC_000023.9:g.37548111T>G	NCBI36
NG_009065.1:g.28898T>G , LRG_53:g.28898T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*444T>G	ENSP00000512461.1:n.*444T>G
ENST00000696171.1:c.839T>G	ENSP00000512462.1:p.Met280Arg
ENST00000378588.5:c.935T>G MANE Select	ENSP00000367851.4:p.Met312Arg
ENST00000378588.4:c.935T>G	ENSP00000367851.4:p.Met312Arg
ENST00000465127.1:c.171+377914T>G	ENSP00000417050.1:n.171+377914T>G
ENST00000492288.1:n.360T>G
NM_000397.3:c.935T>G , LRG_53t1:c.935T>G	NP_000388.2:p.Met312Arg
XM_011543890.1:c.629T>G	XP_011542192.1:p.Met210Arg
NM_000397.4:c.935T>G MANE Select	NP_000388.2:p.Met312Arg