Canonical Allele Identifier: CA10383764
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1144847
ClinVar RCV Id: RCV001483499 RCV002222712
dbSNP Id: rs371655268
ExAC: X:37655341 C / T
gnomAD v2: X-37655341-C-T
gnomAD v3: X-37796088-C-T
gnomAD v4: X-37796088-C-T
MyVariant Identifiers: chrX:g.37655341C>T (hg19) chrX:g.37796088C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796088C>T , CM000685.2:g.37796088C>T GRCh38
NC_000023.10:g.37655341C>T , CM000685.1:g.37655341C>T GRCh37
NC_000023.9:g.37540281C>T NCBI36
NG_009065.1:g.21068C>T , LRG_53:g.21068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*130C>T ENSP00000512461.1:n.*130C>T
ENST00000696171.1:c.525C>T ENSP00000512462.1:p.Tyr175=
ENST00000696172.1:c.338-2867C>T ENSP00000512463.1:n.338-2867C>T
ENST00000378588.5:c.621C>T MANE Select ENSP00000367851.4:p.Tyr207=
ENST00000378588.4:c.621C>T ENSP00000367851.4:p.Tyr207=
ENST00000465127.1:c.171+370088C>T ENSP00000417050.1:n.171+370088C>T
NM_000397.3:c.621C>T , LRG_53t1:c.621C>T NP_000388.2:p.Tyr207=
XM_011543890.1:c.315C>T XP_011542192.1:p.Tyr105=
NM_000397.4:c.621C>T MANE Select NP_000388.2:p.Tyr207=
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