Canonical Allele Identifier: CA412977448
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1575018
ClinVar RCV Id: RCV002083247
dbSNP Id: rs141756032
MyVariant Identifiers: chrX:g.37663322G>A (hg19) chrX:g.37804069G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804069G>A , CM000685.2:g.37804069G>A GRCh38
NC_000023.10:g.37663322G>A , CM000685.1:g.37663322G>A GRCh37
NC_000023.9:g.37548266G>A NCBI36
NG_009065.1:g.29053G>A , LRG_53:g.29053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*599G>A ENSP00000512461.1:n.*599G>A
ENST00000696171.1:c.994G>A ENSP00000512462.1:p.Gly332Arg
ENST00000378588.5:c.1090G>A MANE Select ENSP00000367851.4:p.Gly364Arg
ENST00000378588.4:c.1090G>A ENSP00000367851.4:p.Gly364Arg
ENST00000465127.1:c.171+378069G>A ENSP00000417050.1:n.171+378069G>A
ENST00000492288.1:n.515G>A
NM_000397.3:c.1090G>A , LRG_53t1:c.1090G>A NP_000388.2:p.Gly364Arg
XM_011543890.1:c.784G>A XP_011542192.1:p.Gly262Arg
NM_000397.4:c.1090G>A MANE Select NP_000388.2:p.Gly364Arg
Search 100 bp 5'
Search 100 bp 3'