Canonical Allele Identifier: CA219712

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68390
• ClinVar RCV Id: RCV000059252
• dbSNP Id: rs151344480
• MyVariant Identifiers: chrX:g.37642765C>A (hg19) ; chrX:g.37783512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783512C>A , CM000685.2:g.37783512C>A	GRCh38
NC_000023.10:g.37642765C>A , CM000685.1:g.37642765C>A	GRCh37
NC_000023.9:g.37527709C>A	NCBI36
NG_009065.1:g.8496C>A , LRG_53:g.8496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.164C>A	ENSP00000512461.1:p.Ala55Asp
ENST00000696171.1:c.68C>A	ENSP00000512462.1:p.Ala23Asp
ENST00000696172.1:c.164C>A	ENSP00000512463.1:p.Ala55Asp
ENST00000696173.1:n.172C>A
ENST00000378588.5:c.164C>A MANE Select	ENSP00000367851.4:p.Ala55Asp
ENST00000378588.4:c.164C>A	ENSP00000367851.4:p.Ala55Asp
ENST00000465127.1:c.171+357512C>A	ENSP00000417050.1:n.171+357512C>A
NM_000397.3:c.164C>A , LRG_53t1:c.164C>A	NP_000388.2:p.Ala55Asp
XM_011543890.1:c.-267C>A	XP_011542192.1:n.-267C>A
NM_000397.4:c.164C>A MANE Select	NP_000388.2:p.Ala55Asp