Canonical Allele Identifier: CA2693426568
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37796152-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796152A>T , CM000685.2:g.37796152A>T GRCh38
NC_000023.10:g.37655405A>T , CM000685.1:g.37655405A>T GRCh37
NC_000023.9:g.37540345A>T NCBI36
NG_009065.1:g.21132A>T , LRG_53:g.21132A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*183+11A>T ENSP00000512461.1:n.*183+11A>T
ENST00000696171.1:c.578+11A>T ENSP00000512462.1:n.578+11A>T
ENST00000696172.1:c.338-2803A>T ENSP00000512463.1:n.338-2803A>T
ENST00000378588.5:c.674+11A>T MANE Select ENSP00000367851.4:n.674+11A>T
ENST00000378588.4:c.674+11A>T ENSP00000367851.4:n.674+11A>T
ENST00000465127.1:c.171+370152A>T ENSP00000417050.1:n.171+370152A>T
NM_000397.3:c.674+11A>T , LRG_53t1:c.674+11A>T NP_000388.2:n.674+11A>T
XM_011543890.1:c.368+11A>T XP_011542192.1:n.368+11A>T
NM_000397.4:c.674+11A>T MANE Select NP_000388.2:n.674+11A>T