Canonical Allele Identifier: CA128806
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 29970
ClinVar RCV Id: RCV000022862 RCV000059260 RCV000208608
dbSNP Id: rs151344497
MyVariant Identifiers: chrX:g.37655252A>C (hg19) chrX:g.37795999A>C (hg38)
PubMed: PMID:21278736 PMID:22876374
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795999A>C , CM000685.2:g.37795999A>C GRCh38
NC_000023.10:g.37655252A>C , CM000685.1:g.37655252A>C GRCh37
NC_000023.9:g.37540192A>C NCBI36
NG_009065.1:g.20979A>C , LRG_53:g.20979A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*41A>C ENSP00000512461.1:n.*41A>C
ENST00000696171.1:c.436A>C ENSP00000512462.1:p.Thr146Pro
ENST00000696172.1:c.338-2956A>C ENSP00000512463.1:n.338-2956A>C
ENST00000378588.5:c.532A>C MANE Select ENSP00000367851.4:p.Thr178Pro
ENST00000378588.4:c.532A>C ENSP00000367851.4:p.Thr178Pro
ENST00000465127.1:c.171+369999A>C ENSP00000417050.1:n.171+369999A>C
NM_000397.3:c.532A>C , LRG_53t1:c.532A>C NP_000388.2:p.Thr178Pro
XM_011543890.1:c.226A>C XP_011542192.1:p.Thr76Pro
NM_000397.4:c.532A>C MANE Select NP_000388.2:p.Thr178Pro
Search 100 bp 5'
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