Canonical Allele Identifier: CA412976585

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37658264G>T (hg19) ; chrX:g.37799011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799011G>T , CM000685.2:g.37799011G>T	GRCh38
NC_000023.10:g.37658264G>T , CM000685.1:g.37658264G>T	GRCh37
NC_000023.9:g.37543204G>T	NCBI36
NG_009065.1:g.23991G>T , LRG_53:g.23991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*240G>T	ENSP00000512461.1:n.*240G>T
ENST00000696171.1:c.635G>T	ENSP00000512462.1:p.Cys212Phe
ENST00000696172.1:c.*7G>T	ENSP00000512463.1:n.*7G>T
ENST00000378588.5:c.731G>T MANE Select	ENSP00000367851.4:p.Cys244Phe
ENST00000378588.4:c.731G>T	ENSP00000367851.4:p.Cys244Phe
ENST00000465127.1:c.171+373011G>T	ENSP00000417050.1:n.171+373011G>T
ENST00000492288.1:n.156G>T
NM_000397.3:c.731G>T , LRG_53t1:c.731G>T	NP_000388.2:p.Cys244Phe
XM_011543890.1:c.425G>T	XP_011542192.1:p.Cys142Phe
NM_000397.4:c.731G>T MANE Select	NP_000388.2:p.Cys244Phe