Canonical Allele Identifier: CA2693426647
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37804187-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804187T>A , CM000685.2:g.37804187T>A GRCh38
NC_000023.10:g.37663440T>A , CM000685.1:g.37663440T>A GRCh37
NC_000023.9:g.37548384T>A NCBI36
NG_009065.1:g.29171T>A , LRG_53:g.29171T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*660+57T>A ENSP00000512461.1:n.*660+57T>A
ENST00000696171.1:c.1055+57T>A ENSP00000512462.1:n.1055+57T>A
ENST00000378588.5:c.1151+57T>A MANE Select ENSP00000367851.4:n.1151+57T>A
ENST00000378588.4:c.1151+57T>A ENSP00000367851.4:n.1151+57T>A
ENST00000465127.1:c.171+378187T>A ENSP00000417050.1:n.171+378187T>A
NM_000397.3:c.1151+57T>A , LRG_53t1:c.1151+57T>A NP_000388.2:n.1151+57T>A
XM_011543890.1:c.845+57T>A XP_011542192.1:n.845+57T>A
NM_000397.4:c.1151+57T>A MANE Select NP_000388.2:n.1151+57T>A