Canonical Allele Identifier: CA515677235
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs782492839
gnomAD v2: X-37664259-G-A
gnomAD v4: X-37805006-G-A
MyVariant Identifiers: chrX:g.37664259G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805006G>A , CM000685.2:g.37805006G>A GRCh38
NC_000023.10:g.37664259G>A , CM000685.1:g.37664259G>A GRCh37
NC_000023.9:g.37549203G>A NCBI36
NG_009065.1:g.29990G>A , LRG_53:g.29990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*661G>A ENSP00000512461.1:n.*661G>A
ENST00000696171.1:c.1056G>A ENSP00000512462.1:p.Lys352=
ENST00000378588.5:c.1152G>A MANE Select ENSP00000367851.4:p.Lys384=
ENST00000378588.4:c.1152G>A ENSP00000367851.4:p.Lys384=
ENST00000465127.1:c.171+379006G>A ENSP00000417050.1:n.171+379006G>A
NM_000397.3:c.1152G>A , LRG_53t1:c.1152G>A NP_000388.2:p.Lys384=
XM_011543890.1:c.846G>A XP_011542192.1:p.Lys282=
NM_000397.4:c.1152G>A MANE Select NP_000388.2:p.Lys384=
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