Canonical Allele Identifier: CA412977269
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 573596
ClinVar RCV Id: RCV000695304
dbSNP Id: rs1569479943
MyVariant Identifiers: chrX:g.37663243G>A (hg19) chrX:g.37803990G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803990G>A , CM000685.2:g.37803990G>A GRCh38
NC_000023.10:g.37663243G>A , CM000685.1:g.37663243G>A GRCh37
NC_000023.9:g.37548187G>A NCBI36
NG_009065.1:g.28974G>A , LRG_53:g.28974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*520G>A ENSP00000512461.1:n.*520G>A
ENST00000696171.1:c.915G>A ENSP00000512462.1:p.Trp305Ter
ENST00000378588.5:c.1011G>A MANE Select ENSP00000367851.4:p.Trp337Ter
ENST00000378588.4:c.1011G>A ENSP00000367851.4:p.Trp337Ter
ENST00000465127.1:c.171+377990G>A ENSP00000417050.1:n.171+377990G>A
ENST00000492288.1:n.436G>A
NM_000397.3:c.1011G>A , LRG_53t1:c.1011G>A NP_000388.2:p.Trp337Ter
XM_011543890.1:c.705G>A XP_011542192.1:p.Trp235Ter
NM_000397.4:c.1011G>A MANE Select NP_000388.2:p.Trp337Ter
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