Canonical Allele Identifier: CA412977022

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663137C>A (hg19) ; chrX:g.37803884C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803884C>A , CM000685.2:g.37803884C>A	GRCh38
NC_000023.10:g.37663137C>A , CM000685.1:g.37663137C>A	GRCh37
NC_000023.9:g.37548081C>A	NCBI36
NG_009065.1:g.28868C>A , LRG_53:g.28868C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*414C>A	ENSP00000512461.1:n.*414C>A
ENST00000696171.1:c.809C>A	ENSP00000512462.1:p.Thr270Asn
ENST00000378588.5:c.905C>A MANE Select	ENSP00000367851.4:p.Thr302Asn
ENST00000378588.4:c.905C>A	ENSP00000367851.4:p.Thr302Asn
ENST00000465127.1:c.171+377884C>A	ENSP00000417050.1:n.171+377884C>A
ENST00000492288.1:n.330C>A
NM_000397.3:c.905C>A , LRG_53t1:c.905C>A	NP_000388.2:p.Thr302Asn
XM_011543890.1:c.599C>A	XP_011542192.1:p.Thr200Asn
NM_000397.4:c.905C>A MANE Select	NP_000388.2:p.Thr302Asn