Canonical Allele Identifier: CA412977275

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663245A>T (hg19) ; chrX:g.37803992A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803992A>T , CM000685.2:g.37803992A>T	GRCh38
NC_000023.10:g.37663245A>T , CM000685.1:g.37663245A>T	GRCh37
NC_000023.9:g.37548189A>T	NCBI36
NG_009065.1:g.28976A>T , LRG_53:g.28976A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*522A>T	ENSP00000512461.1:n.*522A>T
ENST00000696171.1:c.917A>T	ENSP00000512462.1:p.His306Leu
ENST00000378588.5:c.1013A>T MANE Select	ENSP00000367851.4:p.His338Leu
ENST00000378588.4:c.1013A>T	ENSP00000367851.4:p.His338Leu
ENST00000465127.1:c.171+377992A>T	ENSP00000417050.1:n.171+377992A>T
ENST00000492288.1:n.438A>T
NM_000397.3:c.1013A>T , LRG_53t1:c.1013A>T	NP_000388.2:p.His338Leu
XM_011543890.1:c.707A>T	XP_011542192.1:p.His236Leu
NM_000397.4:c.1013A>T MANE Select	NP_000388.2:p.His338Leu