Canonical Allele Identifier: CA10383828
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2732237
ClinVar RCV Id: RCV003511408
dbSNP Id: rs782162737
ExAC: X:37663305 T / C
gnomAD v2: X-37663305-T-C
gnomAD v4: X-37804052-T-C
MyVariant Identifiers: chrX:g.37663305T>C (hg19) chrX:g.37804052T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804052T>C , CM000685.2:g.37804052T>C GRCh38
NC_000023.10:g.37663305T>C , CM000685.1:g.37663305T>C GRCh37
NC_000023.9:g.37548249T>C NCBI36
NG_009065.1:g.29036T>C , LRG_53:g.29036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*582T>C ENSP00000512461.1:n.*582T>C
ENST00000696171.1:c.977T>C ENSP00000512462.1:p.Val326Ala
ENST00000378588.5:c.1073T>C MANE Select ENSP00000367851.4:p.Val358Ala
ENST00000378588.4:c.1073T>C ENSP00000367851.4:p.Val358Ala
ENST00000465127.1:c.171+378052T>C ENSP00000417050.1:n.171+378052T>C
ENST00000492288.1:n.498T>C
NM_000397.3:c.1073T>C , LRG_53t1:c.1073T>C NP_000388.2:p.Val358Ala
XM_011543890.1:c.767T>C XP_011542192.1:p.Val256Ala
NM_000397.4:c.1073T>C MANE Select NP_000388.2:p.Val358Ala
Search 100 bp 5'
Search 100 bp 3'