Canonical Allele Identifier: CA412977390

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663296T>A (hg19) ; chrX:g.37804043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804043T>A , CM000685.2:g.37804043T>A	GRCh38
NC_000023.10:g.37663296T>A , CM000685.1:g.37663296T>A	GRCh37
NC_000023.9:g.37548240T>A	NCBI36
NG_009065.1:g.29027T>A , LRG_53:g.29027T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*573T>A	ENSP00000512461.1:n.*573T>A
ENST00000696171.1:c.968T>A	ENSP00000512462.1:p.Ile323Asn
ENST00000378588.5:c.1064T>A MANE Select	ENSP00000367851.4:p.Ile355Asn
ENST00000378588.4:c.1064T>A	ENSP00000367851.4:p.Ile355Asn
ENST00000465127.1:c.171+378043T>A	ENSP00000417050.1:n.171+378043T>A
ENST00000492288.1:n.489T>A
NM_000397.3:c.1064T>A , LRG_53t1:c.1064T>A	NP_000388.2:p.Ile355Asn
XM_011543890.1:c.758T>A	XP_011542192.1:p.Ile253Asn
NM_000397.4:c.1064T>A MANE Select	NP_000388.2:p.Ile355Asn