Canonical Allele Identifier: CA412975861
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37795982-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795982C>T , CM000685.2:g.37795982C>T GRCh38
NC_000023.10:g.37655235C>T , CM000685.1:g.37655235C>T GRCh37
NC_000023.9:g.37540175C>T NCBI36
NG_009065.1:g.20962C>T , LRG_53:g.20962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*24C>T ENSP00000512461.1:n.*24C>T
ENST00000696171.1:c.419C>T ENSP00000512462.1:p.Thr140Ile
ENST00000696172.1:c.338-2973C>T ENSP00000512463.1:n.338-2973C>T
ENST00000378588.5:c.515C>T MANE Select ENSP00000367851.4:p.Thr172Ile
ENST00000378588.4:c.515C>T ENSP00000367851.4:p.Thr172Ile
ENST00000465127.1:c.171+369982C>T ENSP00000417050.1:n.171+369982C>T
NM_000397.3:c.515C>T , LRG_53t1:c.515C>T NP_000388.2:p.Thr172Ile
XM_011543890.1:c.209C>T XP_011542192.1:p.Thr70Ile
NM_000397.4:c.515C>T MANE Select NP_000388.2:p.Thr172Ile