Canonical Allele Identifier: CA121254
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 10933
ClinVar RCV Id: RCV000011680 RCV000482302 RCV002504778
dbSNP Id: rs387906485
gnomAD v4: X-37783600-G-A
MyVariant Identifiers: chrX:g.37642853G>A (hg19) chrX:g.37783600G>A (hg38)
PubMed: PMID:8634410 PMID:8900212 PMID:8916969 PMID:9585602 PMID:10914676
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783600G>A , CM000685.2:g.37783600G>A GRCh38
NC_000023.10:g.37642853G>A , CM000685.1:g.37642853G>A GRCh37
NC_000023.9:g.37527797G>A NCBI36
NG_009065.1:g.8584G>A , LRG_53:g.8584G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.252G>A ENSP00000512461.1:p.Ala84=
ENST00000696171.1:c.156G>A ENSP00000512462.1:p.Ala52=
ENST00000696172.1:c.252G>A ENSP00000512463.1:p.Ala84=
ENST00000696173.1:n.260G>A
ENST00000378588.5:c.252G>A MANE Select ENSP00000367851.4:p.Ala84=
ENST00000378588.4:c.252G>A ENSP00000367851.4:p.Ala84=
ENST00000465127.1:c.171+357600G>A ENSP00000417050.1:n.171+357600G>A
NM_000397.3:c.252G>A , LRG_53t1:c.252G>A NP_000388.2:p.Ala84=
XM_011543890.1:c.-179G>A XP_011542192.1:n.-179G>A
NM_000397.4:c.252G>A MANE Select NP_000388.2:p.Ala84=
Search 100 bp 5'
Search 100 bp 3'