Canonical Allele Identifier: CA2693425761
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37783724-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783724C>A , CM000685.2:g.37783724C>A GRCh38
NC_000023.10:g.37642977C>A , CM000685.1:g.37642977C>A GRCh37
NC_000023.9:g.37527921C>A NCBI36
NG_009065.1:g.8708C>A , LRG_53:g.8708C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.252+124C>A ENSP00000512461.1:n.252+124C>A
ENST00000696171.1:c.156+124C>A ENSP00000512462.1:n.156+124C>A
ENST00000696172.1:c.252+124C>A ENSP00000512463.1:n.252+124C>A
ENST00000696173.1:n.260+124C>A
ENST00000378588.5:c.252+124C>A MANE Select ENSP00000367851.4:n.252+124C>A
ENST00000378588.4:c.252+124C>A ENSP00000367851.4:n.252+124C>A
ENST00000465127.1:c.171+357724C>A ENSP00000417050.1:n.171+357724C>A
NM_000397.3:c.252+124C>A , LRG_53t1:c.252+124C>A NP_000388.2:n.252+124C>A
XM_011543890.1:c.-179+124C>A XP_011542192.1:n.-179+124C>A
NM_000397.4:c.252+124C>A MANE Select NP_000388.2:n.252+124C>A
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