Canonical Allele Identifier: CA219752

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68410
• ClinVar RCV Id: RCV000059277
• dbSNP Id: rs137854589
• MyVariant Identifiers: chrX:g.37658264G>A (hg19) ; chrX:g.37799011G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*240G>A	ENSP00000512461.1:n.*240G>A
ENST00000696171.1:c.635G>A	ENSP00000512462.1:p.Cys212Tyr
ENST00000696172.1:c.*7G>A	ENSP00000512463.1:n.*7G>A
ENST00000378588.5:c.731G>A MANE Select	ENSP00000367851.4:p.Cys244Tyr
ENST00000378588.4:c.731G>A	ENSP00000367851.4:p.Cys244Tyr
ENST00000465127.1:c.171+373011G>A	ENSP00000417050.1:n.171+373011G>A
ENST00000492288.1:n.156G>A
NM_000397.3:c.731G>A , LRG_53t1:c.731G>A	NP_000388.2:p.Cys244Tyr
XM_011543890.1:c.425G>A	XP_011542192.1:p.Cys142Tyr
NM_000397.4:c.731G>A MANE Select	NP_000388.2:p.Cys244Tyr