Canonical Allele Identifier: CA10383771

Gene: CYBB

Linked Data

• dbSNP Id: rs782727740
• ExAC: X:37655383 C / G
• gnomAD v2: X-37655383-C-G
• gnomAD v4: X-37796130-C-G
• MyVariant Identifiers: chrX:g.37655383C>G (hg19) ; chrX:g.37796130C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796130C>G , CM000685.2:g.37796130C>G	GRCh38
NC_000023.10:g.37655383C>G , CM000685.1:g.37655383C>G	GRCh37
NC_000023.9:g.37540323C>G	NCBI36
NG_009065.1:g.21110C>G , LRG_53:g.21110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*172C>G	ENSP00000512461.1:n.*172C>G
ENST00000696171.1:c.567C>G	ENSP00000512462.1:p.Ile189Met
ENST00000696172.1:c.338-2825C>G	ENSP00000512463.1:n.338-2825C>G
ENST00000378588.5:c.663C>G MANE Select	ENSP00000367851.4:p.Ile221Met
ENST00000378588.4:c.663C>G	ENSP00000367851.4:p.Ile221Met
ENST00000465127.1:c.171+370130C>G	ENSP00000417050.1:n.171+370130C>G
NM_000397.3:c.663C>G , LRG_53t1:c.663C>G	NP_000388.2:p.Ile221Met
XM_011543890.1:c.357C>G	XP_011542192.1:p.Ile119Met
NM_000397.4:c.663C>G MANE Select	NP_000388.2:p.Ile221Met