Canonical Allele Identifier: CA2693426575
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37796177-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796177T>A , CM000685.2:g.37796177T>A GRCh38
NC_000023.10:g.37655430T>A , CM000685.1:g.37655430T>A GRCh37
NC_000023.9:g.37540370T>A NCBI36
NG_009065.1:g.21157T>A , LRG_53:g.21157T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*183+36T>A ENSP00000512461.1:n.*183+36T>A
ENST00000696171.1:c.578+36T>A ENSP00000512462.1:n.578+36T>A
ENST00000696172.1:c.338-2778T>A ENSP00000512463.1:n.338-2778T>A
ENST00000378588.5:c.674+36T>A MANE Select ENSP00000367851.4:n.674+36T>A
ENST00000378588.4:c.674+36T>A ENSP00000367851.4:n.674+36T>A
ENST00000465127.1:c.171+370177T>A ENSP00000417050.1:n.171+370177T>A
NM_000397.3:c.674+36T>A , LRG_53t1:c.674+36T>A NP_000388.2:n.674+36T>A
XM_011543890.1:c.368+36T>A XP_011542192.1:n.368+36T>A
NM_000397.4:c.674+36T>A MANE Select NP_000388.2:n.674+36T>A