Canonical Allele Identifier: CA2579583029
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37796191-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796191G>A , CM000685.2:g.37796191G>A GRCh38
NC_000023.10:g.37655444G>A , CM000685.1:g.37655444G>A GRCh37
NC_000023.9:g.37540384G>A NCBI36
NG_009065.1:g.21171G>A , LRG_53:g.21171G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*183+50G>A ENSP00000512461.1:n.*183+50G>A
ENST00000696171.1:c.578+50G>A ENSP00000512462.1:n.578+50G>A
ENST00000696172.1:c.338-2764G>A ENSP00000512463.1:n.338-2764G>A
ENST00000378588.5:c.674+50G>A MANE Select ENSP00000367851.4:n.674+50G>A
ENST00000378588.4:c.674+50G>A ENSP00000367851.4:n.674+50G>A
ENST00000465127.1:c.171+370191G>A ENSP00000417050.1:n.171+370191G>A
NM_000397.3:c.674+50G>A , LRG_53t1:c.674+50G>A NP_000388.2:n.674+50G>A
XM_011543890.1:c.368+50G>A XP_011542192.1:n.368+50G>A
NM_000397.4:c.674+50G>A MANE Select NP_000388.2:n.674+50G>A