Canonical Allele Identifier: CA412977346

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663278A>T (hg19) ; chrX:g.37804025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804025A>T , CM000685.2:g.37804025A>T	GRCh38
NC_000023.10:g.37663278A>T , CM000685.1:g.37663278A>T	GRCh37
NC_000023.9:g.37548222A>T	NCBI36
NG_009065.1:g.29009A>T , LRG_53:g.29009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*555A>T	ENSP00000512461.1:n.*555A>T
ENST00000696171.1:c.950A>T	ENSP00000512462.1:p.Asp317Val
ENST00000378588.5:c.1046A>T MANE Select	ENSP00000367851.4:p.Asp349Val
ENST00000378588.4:c.1046A>T	ENSP00000367851.4:p.Asp349Val
ENST00000465127.1:c.171+378025A>T	ENSP00000417050.1:n.171+378025A>T
ENST00000492288.1:n.471A>T
NM_000397.3:c.1046A>T , LRG_53t1:c.1046A>T	NP_000388.2:p.Asp349Val
XM_011543890.1:c.740A>T	XP_011542192.1:p.Asp247Val
NM_000397.4:c.1046A>T MANE Select	NP_000388.2:p.Asp349Val