Canonical Allele Identifier: CA10383757
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs782637800
gnomAD v2: X-37655264-A-G
gnomAD v4: X-37796011-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796011A>G , CM000685.2:g.37796011A>G GRCh38
NC_000023.10:g.37655264A>G , CM000685.1:g.37655264A>G GRCh37
NC_000023.9:g.37540204A>G NCBI36
NG_009065.1:g.20991A>G , LRG_53:g.20991A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*53A>G ENSP00000512461.1:n.*53A>G
ENST00000696171.1:c.448A>G ENSP00000512462.1:p.Ile150Val
ENST00000696172.1:c.338-2944A>G ENSP00000512463.1:n.338-2944A>G
ENST00000378588.5:c.544A>G MANE Select ENSP00000367851.4:p.Ile182Val
ENST00000378588.4:c.544A>G ENSP00000367851.4:p.Ile182Val
ENST00000465127.1:c.171+370011A>G ENSP00000417050.1:n.171+370011A>G
NM_000397.3:c.544A>G , LRG_53t1:c.544A>G NP_000388.2:p.Ile182Val
XM_011543890.1:c.238A>G XP_011542192.1:p.Ile80Val
NM_000397.4:c.544A>G MANE Select NP_000388.2:p.Ile182Val