Canonical Allele Identifier: CA219720

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68394
• ClinVar RCV Id: RCV000059258
• dbSNP Id: rs151344458
• MyVariant Identifiers: chrX:g.37652936A>G (hg19) ; chrX:g.37793683A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37793683A>G , CM000685.2:g.37793683A>G	GRCh38
NC_000023.10:g.37652936A>G , CM000685.1:g.37652936A>G	GRCh37
NC_000023.9:g.37537876A>G	NCBI36
NG_009065.1:g.18663A>G , LRG_53:g.18663A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.337+1624A>G	ENSP00000512461.1:n.337+1624A>G
ENST00000696171.1:c.260A>G	ENSP00000512462.1:p.His87Arg
ENST00000696172.1:c.337+1624A>G	ENSP00000512463.1:n.337+1624A>G
ENST00000378588.5:c.356A>G MANE Select	ENSP00000367851.4:p.His119Arg
ENST00000378588.4:c.356A>G	ENSP00000367851.4:p.His119Arg
ENST00000465127.1:c.171+367683A>G	ENSP00000417050.1:n.171+367683A>G
NM_000397.3:c.356A>G , LRG_53t1:c.356A>G	NP_000388.2:p.His119Arg
XM_011543890.1:c.50A>G	XP_011542192.1:p.His17Arg
NM_000397.4:c.356A>G MANE Select	NP_000388.2:p.His119Arg