Canonical Allele Identifier: CA2424680383
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs1929296888
gnomAD v4: X-37795948-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795948C>A , CM000685.2:g.37795948C>A GRCh38
NC_000023.10:g.37655201C>A , CM000685.1:g.37655201C>A GRCh37
NC_000023.9:g.37540141C>A NCBI36
NG_009065.1:g.20928C>A , LRG_53:g.20928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.338-3C>A ENSP00000512461.1:n.338-3C>A
ENST00000696171.1:c.388-3C>A ENSP00000512462.1:n.388-3C>A
ENST00000696172.1:c.338-3007C>A ENSP00000512463.1:n.338-3007C>A
ENST00000378588.5:c.484-3C>A MANE Select ENSP00000367851.4:n.484-3C>A
ENST00000378588.4:c.484-3C>A ENSP00000367851.4:n.484-3C>A
ENST00000465127.1:c.171+369948C>A ENSP00000417050.1:n.171+369948C>A
NM_000397.3:c.484-3C>A , LRG_53t1:c.484-3C>A NP_000388.2:n.484-3C>A
XM_011543890.1:c.178-3C>A XP_011542192.1:n.178-3C>A
NM_000397.4:c.484-3C>A MANE Select NP_000388.2:n.484-3C>A
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