Canonical Allele Identifier: CA219724

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68396
• ClinVar RCV Id: RCV000059262
• dbSNP Id: rs151344493
• gnomAD v4: X-37796045-C-T
• MyVariant Identifiers: chrX:g.37655298C>T (hg19) ; chrX:g.37796045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796045C>T , CM000685.2:g.37796045C>T	GRCh38
NC_000023.10:g.37655298C>T , CM000685.1:g.37655298C>T	GRCh37
NC_000023.9:g.37540238C>T	NCBI36
NG_009065.1:g.21025C>T , LRG_53:g.21025C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*87C>T	ENSP00000512461.1:n.*87C>T
ENST00000696171.1:c.482C>T	ENSP00000512462.1:p.Ser161Phe
ENST00000696172.1:c.338-2910C>T	ENSP00000512463.1:n.338-2910C>T
ENST00000378588.5:c.578C>T MANE Select	ENSP00000367851.4:p.Ser193Phe
ENST00000378588.4:c.578C>T	ENSP00000367851.4:p.Ser193Phe
ENST00000465127.1:c.171+370045C>T	ENSP00000417050.1:n.171+370045C>T
NM_000397.3:c.578C>T , LRG_53t1:c.578C>T	NP_000388.2:p.Ser193Phe
XM_011543890.1:c.272C>T	XP_011542192.1:p.Ser91Phe
NM_000397.4:c.578C>T MANE Select	NP_000388.2:p.Ser193Phe