Canonical Allele Identifier: CA412977591
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804130A>C , CM000685.2:g.37804130A>C GRCh38
NC_000023.10:g.37663383A>C , CM000685.1:g.37663383A>C GRCh37
NC_000023.9:g.37548327A>C NCBI36
NG_009065.1:g.29114A>C , LRG_53:g.29114A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*660A>C ENSP00000512461.1:n.*660A>C
ENST00000696171.1:c.1055A>C ENSP00000512462.1:p.Lys352Thr
ENST00000378588.5:c.1151A>C MANE Select ENSP00000367851.4:p.Lys384Thr
ENST00000378588.4:c.1151A>C ENSP00000367851.4:p.Lys384Thr
ENST00000465127.1:c.171+378130A>C ENSP00000417050.1:n.171+378130A>C
NM_000397.3:c.1151A>C , LRG_53t1:c.1151A>C NP_000388.2:p.Lys384Thr
XM_011543890.1:c.845A>C XP_011542192.1:p.Lys282Thr
NM_000397.4:c.1151A>C MANE Select NP_000388.2:p.Lys384Thr