Canonical Allele Identifier: CA219743

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68405
• ClinVar RCV Id: RCV000059272
• dbSNP Id: rs151344464
• MyVariant Identifiers: chrX:g.37655388G>T (hg19) ; chrX:g.37796135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796135G>T , CM000685.2:g.37796135G>T	GRCh38
NC_000023.10:g.37655388G>T , CM000685.1:g.37655388G>T	GRCh37
NC_000023.9:g.37540328G>T	NCBI36
NG_009065.1:g.21115G>T , LRG_53:g.21115G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*177G>T	ENSP00000512461.1:n.*177G>T
ENST00000696171.1:c.572G>T	ENSP00000512462.1:p.Gly191Val
ENST00000696172.1:c.338-2820G>T	ENSP00000512463.1:n.338-2820G>T
ENST00000378588.5:c.668G>T MANE Select	ENSP00000367851.4:p.Gly223Val
ENST00000378588.4:c.668G>T	ENSP00000367851.4:p.Gly223Val
ENST00000465127.1:c.171+370135G>T	ENSP00000417050.1:n.171+370135G>T
NM_000397.3:c.668G>T , LRG_53t1:c.668G>T	NP_000388.2:p.Gly223Val
XM_011543890.1:c.362G>T	XP_011542192.1:p.Gly121Val
NM_000397.4:c.668G>T MANE Select	NP_000388.2:p.Gly223Val