Canonical Allele Identifier: CA412977301

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663257T>G (hg19) ; chrX:g.37804004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804004T>G , CM000685.2:g.37804004T>G	GRCh38
NC_000023.10:g.37663257T>G , CM000685.1:g.37663257T>G	GRCh37
NC_000023.9:g.37548201T>G	NCBI36
NG_009065.1:g.28988T>G , LRG_53:g.28988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*534T>G	ENSP00000512461.1:n.*534T>G
ENST00000696171.1:c.929T>G	ENSP00000512462.1:p.Leu310Arg
ENST00000378588.5:c.1025T>G MANE Select	ENSP00000367851.4:p.Leu342Arg
ENST00000378588.4:c.1025T>G	ENSP00000367851.4:p.Leu342Arg
ENST00000465127.1:c.171+378004T>G	ENSP00000417050.1:n.171+378004T>G
ENST00000492288.1:n.450T>G
NM_000397.3:c.1025T>G , LRG_53t1:c.1025T>G	NP_000388.2:p.Leu342Arg
XM_011543890.1:c.719T>G	XP_011542192.1:p.Leu240Arg
NM_000397.4:c.1025T>G MANE Select	NP_000388.2:p.Leu342Arg