Canonical Allele Identifier: CA412977352

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663281T>A (hg19) ; chrX:g.37804028T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804028T>A , CM000685.2:g.37804028T>A	GRCh38
NC_000023.10:g.37663281T>A , CM000685.1:g.37663281T>A	GRCh37
NC_000023.9:g.37548225T>A	NCBI36
NG_009065.1:g.29012T>A , LRG_53:g.29012T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*558T>A	ENSP00000512461.1:n.*558T>A
ENST00000696171.1:c.953T>A	ENSP00000512462.1:p.Phe318Tyr
ENST00000378588.5:c.1049T>A MANE Select	ENSP00000367851.4:p.Phe350Tyr
ENST00000378588.4:c.1049T>A	ENSP00000367851.4:p.Phe350Tyr
ENST00000465127.1:c.171+378028T>A	ENSP00000417050.1:n.171+378028T>A
ENST00000492288.1:n.474T>A
NM_000397.3:c.1049T>A , LRG_53t1:c.1049T>A	NP_000388.2:p.Phe350Tyr
XM_011543890.1:c.743T>A	XP_011542192.1:p.Phe248Tyr
NM_000397.4:c.1049T>A MANE Select	NP_000388.2:p.Phe350Tyr