Canonical Allele Identifier: CA2693426518
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37803744-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803744G>A , CM000685.2:g.37803744G>A GRCh38
NC_000023.10:g.37662997G>A , CM000685.1:g.37662997G>A GRCh37
NC_000023.9:g.37547941G>A NCBI36
NG_009065.1:g.28728G>A , LRG_53:g.28728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*407-133G>A ENSP00000512461.1:n.*407-133G>A
ENST00000696171.1:c.802-133G>A ENSP00000512462.1:n.802-133G>A
ENST00000378588.5:c.898-133G>A MANE Select ENSP00000367851.4:n.898-133G>A
ENST00000378588.4:c.898-133G>A ENSP00000367851.4:n.898-133G>A
ENST00000465127.1:c.171+377744G>A ENSP00000417050.1:n.171+377744G>A
ENST00000492288.1:n.323-133G>A
NM_000397.3:c.898-133G>A , LRG_53t1:c.898-133G>A NP_000388.2:n.898-133G>A
XM_011543890.1:c.592-133G>A XP_011542192.1:n.592-133G>A
NM_000397.4:c.898-133G>A MANE Select NP_000388.2:n.898-133G>A
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