Canonical Allele Identifier: CA2579582875
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37804957-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804957C>A , CM000685.2:g.37804957C>A GRCh38
NC_000023.10:g.37664210C>A , CM000685.1:g.37664210C>A GRCh37
NC_000023.9:g.37549154C>A NCBI36
NG_009065.1:g.29941C>A , LRG_53:g.29941C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*661-49C>A ENSP00000512461.1:n.*661-49C>A
ENST00000696171.1:c.1056-49C>A ENSP00000512462.1:n.1056-49C>A
ENST00000378588.5:c.1152-49C>A MANE Select ENSP00000367851.4:n.1152-49C>A
ENST00000378588.4:c.1152-49C>A ENSP00000367851.4:n.1152-49C>A
ENST00000465127.1:c.171+378957C>A ENSP00000417050.1:n.171+378957C>A
NM_000397.3:c.1152-49C>A , LRG_53t1:c.1152-49C>A NP_000388.2:n.1152-49C>A
XM_011543890.1:c.846-49C>A XP_011542192.1:n.846-49C>A
NM_000397.4:c.1152-49C>A MANE Select NP_000388.2:n.1152-49C>A
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