Canonical Allele Identifier: CA412977134

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663185A>G (hg19) ; chrX:g.37803932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803932A>G , CM000685.2:g.37803932A>G	GRCh38
NC_000023.10:g.37663185A>G , CM000685.1:g.37663185A>G	GRCh37
NC_000023.9:g.37548129A>G	NCBI36
NG_009065.1:g.28916A>G , LRG_53:g.28916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*462A>G	ENSP00000512461.1:n.*462A>G
ENST00000696171.1:c.857A>G	ENSP00000512462.1:p.Lys286Arg
ENST00000378588.5:c.953A>G MANE Select	ENSP00000367851.4:p.Lys318Arg
ENST00000378588.4:c.953A>G	ENSP00000367851.4:p.Lys318Arg
ENST00000465127.1:c.171+377932A>G	ENSP00000417050.1:n.171+377932A>G
ENST00000492288.1:n.378A>G
NM_000397.3:c.953A>G , LRG_53t1:c.953A>G	NP_000388.2:p.Lys318Arg
XM_011543890.1:c.647A>G	XP_011542192.1:p.Lys216Arg
NM_000397.4:c.953A>G MANE Select	NP_000388.2:p.Lys318Arg