Canonical Allele Identifier: CA515675434
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37804017-T-G
MyVariant Identifiers: chrX:g.37663270T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804017T>G , CM000685.2:g.37804017T>G GRCh38
NC_000023.10:g.37663270T>G , CM000685.1:g.37663270T>G GRCh37
NC_000023.9:g.37548214T>G NCBI36
NG_009065.1:g.29001T>G , LRG_53:g.29001T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*547T>G ENSP00000512461.1:n.*547T>G
ENST00000696171.1:c.942T>G ENSP00000512462.1:p.Pro314=
ENST00000378588.5:c.1038T>G MANE Select ENSP00000367851.4:p.Pro346=
ENST00000378588.4:c.1038T>G ENSP00000367851.4:p.Pro346=
ENST00000465127.1:c.171+378017T>G ENSP00000417050.1:n.171+378017T>G
ENST00000492288.1:n.463T>G
NM_000397.3:c.1038T>G , LRG_53t1:c.1038T>G NP_000388.2:p.Pro346=
XM_011543890.1:c.732T>G XP_011542192.1:p.Pro244=
NM_000397.4:c.1038T>G MANE Select NP_000388.2:p.Pro346=
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