Canonical Allele Identifier: CA10383852
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1485565
ClinVar RCV Id: RCV002030441
dbSNP Id: rs151344474
ExAC: X:37664330 G / C
gnomAD v2: X-37664330-G-C
MyVariant Identifiers: chrX:g.37664330G>C (hg19) chrX:g.37805077G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805077G>C , CM000685.2:g.37805077G>C GRCh38
NC_000023.10:g.37664330G>C , CM000685.1:g.37664330G>C GRCh37
NC_000023.9:g.37549274G>C NCBI36
NG_009065.1:g.30061G>C , LRG_53:g.30061G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*732G>C ENSP00000512461.1:n.*732G>C
ENST00000696171.1:c.1127G>C ENSP00000512462.1:p.Gly376Ala
ENST00000378588.5:c.1223G>C MANE Select ENSP00000367851.4:p.Gly408Ala
ENST00000378588.4:c.1223G>C ENSP00000367851.4:p.Gly408Ala
ENST00000465127.1:c.171+379077G>C ENSP00000417050.1:n.171+379077G>C
NM_000397.3:c.1223G>C , LRG_53t1:c.1223G>C NP_000388.2:p.Gly408Ala
XM_011543890.1:c.917G>C XP_011542192.1:p.Gly306Ala
NM_000397.4:c.1223G>C MANE Select NP_000388.2:p.Gly408Ala
Search 100 bp 5'
Search 100 bp 3'