Canonical Allele Identifier: CA2693426719
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37804994-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804994A>G , CM000685.2:g.37804994A>G GRCh38
NC_000023.10:g.37664247A>G , CM000685.1:g.37664247A>G GRCh37
NC_000023.9:g.37549191A>G NCBI36
NG_009065.1:g.29978A>G , LRG_53:g.29978A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*661-12A>G ENSP00000512461.1:n.*661-12A>G
ENST00000696171.1:c.1056-12A>G ENSP00000512462.1:n.1056-12A>G
ENST00000378588.5:c.1152-12A>G MANE Select ENSP00000367851.4:n.1152-12A>G
ENST00000378588.4:c.1152-12A>G ENSP00000367851.4:n.1152-12A>G
ENST00000465127.1:c.171+378994A>G ENSP00000417050.1:n.171+378994A>G
NM_000397.3:c.1152-12A>G , LRG_53t1:c.1152-12A>G NP_000388.2:n.1152-12A>G
XM_011543890.1:c.846-12A>G XP_011542192.1:n.846-12A>G
NM_000397.4:c.1152-12A>G MANE Select NP_000388.2:n.1152-12A>G