Canonical Allele Identifier: CA219664

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68367
• ClinVar RCV Id: RCV000059225 ; RCV001385154
• dbSNP Id: rs151344484
• MyVariant Identifiers: chrX:g.37663244C>T (hg19) ; chrX:g.37803991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803991C>T , CM000685.2:g.37803991C>T	GRCh38
NC_000023.10:g.37663244C>T , CM000685.1:g.37663244C>T	GRCh37
NC_000023.9:g.37548188C>T	NCBI36
NG_009065.1:g.28975C>T , LRG_53:g.28975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*521C>T	ENSP00000512461.1:n.*521C>T
ENST00000696171.1:c.916C>T	ENSP00000512462.1:p.His306Tyr
ENST00000378588.5:c.1012C>T MANE Select	ENSP00000367851.4:p.His338Tyr
ENST00000378588.4:c.1012C>T	ENSP00000367851.4:p.His338Tyr
ENST00000465127.1:c.171+377991C>T	ENSP00000417050.1:n.171+377991C>T
ENST00000492288.1:n.437C>T
NM_000397.3:c.1012C>T , LRG_53t1:c.1012C>T	NP_000388.2:p.His338Tyr
XM_011543890.1:c.706C>T	XP_011542192.1:p.His236Tyr
NM_000397.4:c.1012C>T MANE Select	NP_000388.2:p.His338Tyr