Canonical Allele Identifier: CA515677686
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1958005
ClinVar RCV Id: RCV002691059
MyVariant Identifiers: chrX:g.37664343G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805090G>A , CM000685.2:g.37805090G>A GRCh38
NC_000023.10:g.37664343G>A , CM000685.1:g.37664343G>A GRCh37
NC_000023.9:g.37549287G>A NCBI36
NG_009065.1:g.30074G>A , LRG_53:g.30074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*745G>A ENSP00000512461.1:n.*745G>A
ENST00000696171.1:c.1140G>A ENSP00000512462.1:p.Gly380=
ENST00000378588.5:c.1236G>A MANE Select ENSP00000367851.4:p.Gly412=
ENST00000378588.4:c.1236G>A ENSP00000367851.4:p.Gly412=
ENST00000465127.1:c.171+379090G>A ENSP00000417050.1:n.171+379090G>A
NM_000397.3:c.1236G>A , LRG_53t1:c.1236G>A NP_000388.2:p.Gly412=
XM_011543890.1:c.930G>A XP_011542192.1:p.Gly310=
NM_000397.4:c.1236G>A MANE Select NP_000388.2:p.Gly412=
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