Canonical Allele Identifier: CA412977020

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1163777
• ClinVar RCV Id: RCV001509115
• dbSNP Id: rs2146817029
• MyVariant Identifiers: chrX:g.37663136A>G (hg19) ; chrX:g.37803883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803883A>G , CM000685.2:g.37803883A>G	GRCh38
NC_000023.10:g.37663136A>G , CM000685.1:g.37663136A>G	GRCh37
NC_000023.9:g.37548080A>G	NCBI36
NG_009065.1:g.28867A>G , LRG_53:g.28867A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*413A>G	ENSP00000512461.1:n.*413A>G
ENST00000696171.1:c.808A>G	ENSP00000512462.1:p.Thr270Ala
ENST00000378588.5:c.904A>G MANE Select	ENSP00000367851.4:p.Thr302Ala
ENST00000378588.4:c.904A>G	ENSP00000367851.4:p.Thr302Ala
ENST00000465127.1:c.171+377883A>G	ENSP00000417050.1:n.171+377883A>G
ENST00000492288.1:n.329A>G
NM_000397.3:c.904A>G , LRG_53t1:c.904A>G	NP_000388.2:p.Thr302Ala
XM_011543890.1:c.598A>G	XP_011542192.1:p.Thr200Ala
NM_000397.4:c.904A>G MANE Select	NP_000388.2:p.Thr302Ala