Canonical Allele Identifier: CA412977257

Gene: CYBB

Linked Data

• ClinVar Variation Id: 523790
• ClinVar RCV Id: RCV000627247
• dbSNP Id: rs1556470794
• MyVariant Identifiers: chrX:g.37663238G>T (hg19) ; chrX:g.37803985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803985G>T , CM000685.2:g.37803985G>T	GRCh38
NC_000023.10:g.37663238G>T , CM000685.1:g.37663238G>T	GRCh37
NC_000023.9:g.37548182G>T	NCBI36
NG_009065.1:g.28969G>T , LRG_53:g.28969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*515G>T	ENSP00000512461.1:n.*515G>T
ENST00000696171.1:c.910G>T	ENSP00000512462.1:p.Glu304Ter
ENST00000378588.5:c.1006G>T MANE Select	ENSP00000367851.4:p.Glu336Ter
ENST00000378588.4:c.1006G>T	ENSP00000367851.4:p.Glu336Ter
ENST00000465127.1:c.171+377985G>T	ENSP00000417050.1:n.171+377985G>T
ENST00000492288.1:n.431G>T
NM_000397.3:c.1006G>T , LRG_53t1:c.1006G>T	NP_000388.2:p.Glu336Ter
XM_011543890.1:c.700G>T	XP_011542192.1:p.Glu234Ter
NM_000397.4:c.1006G>T MANE Select	NP_000388.2:p.Glu336Ter