Canonical Allele Identifier: CA219748

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68407
• ClinVar RCV Id: RCV000059274
• dbSNP Id: rs151344494
• MyVariant Identifiers: chrX:g.37655394A>T (hg19) ; chrX:g.37796141A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796141A>T , CM000685.2:g.37796141A>T	GRCh38
NC_000023.10:g.37655394A>T , CM000685.1:g.37655394A>T	GRCh37
NC_000023.9:g.37540334A>T	NCBI36
NG_009065.1:g.21121A>T , LRG_53:g.21121A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*183A>T	ENSP00000512461.1:n.*183A>T
ENST00000696171.1:c.578A>T	ENSP00000512462.1:p.Glu193Val
ENST00000696172.1:c.338-2814A>T	ENSP00000512463.1:n.338-2814A>T
ENST00000378588.5:c.674A>T MANE Select	ENSP00000367851.4:p.Glu225Val
ENST00000378588.4:c.674A>T	ENSP00000367851.4:p.Glu225Val
ENST00000465127.1:c.171+370141A>T	ENSP00000417050.1:n.171+370141A>T
NM_000397.3:c.674A>T , LRG_53t1:c.674A>T	NP_000388.2:p.Glu225Val
XM_011543890.1:c.368A>T	XP_011542192.1:p.Glu123Val
NM_000397.4:c.674A>T MANE Select	NP_000388.2:p.Glu225Val