Canonical Allele Identifier: CA128804
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 29969
ClinVar RCV Id: RCV000022861 RCV000059275 RCV000208611
dbSNP Id: rs151344498
MyVariant Identifiers: chrX:g.37658225A>C (hg19) chrX:g.37798972A>C (hg38)
PubMed: PMID:17293536 PMID:21278736 PMID:22876374
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37798972A>C , CM000685.2:g.37798972A>C GRCh38
NC_000023.10:g.37658225A>C , CM000685.1:g.37658225A>C GRCh37
NC_000023.9:g.37543165A>C NCBI36
NG_009065.1:g.23952A>C , LRG_53:g.23952A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*201A>C ENSP00000512461.1:n.*201A>C
ENST00000696171.1:c.596A>C ENSP00000512462.1:p.Gln199Pro
ENST00000696172.1:c.355A>C ENSP00000512463.1:p.Arg119=
ENST00000378588.5:c.692A>C MANE Select ENSP00000367851.4:p.Gln231Pro
ENST00000378588.4:c.692A>C ENSP00000367851.4:p.Gln231Pro
ENST00000465127.1:c.171+372972A>C ENSP00000417050.1:n.171+372972A>C
ENST00000492288.1:n.117A>C
NM_000397.3:c.692A>C , LRG_53t1:c.692A>C NP_000388.2:p.Gln231Pro
XM_011543890.1:c.386A>C XP_011542192.1:p.Gln129Pro
NM_000397.4:c.692A>C MANE Select NP_000388.2:p.Gln231Pro
Search 100 bp 5'
Search 100 bp 3'