Canonical Allele Identifier: CA412977662
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805034G>C , CM000685.2:g.37805034G>C GRCh38
NC_000023.10:g.37664287G>C , CM000685.1:g.37664287G>C GRCh37
NC_000023.9:g.37549231G>C NCBI36
NG_009065.1:g.30018G>C , LRG_53:g.30018G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*689G>C ENSP00000512461.1:n.*689G>C
ENST00000696171.1:c.1084G>C ENSP00000512462.1:p.Ala362Pro
ENST00000378588.5:c.1180G>C MANE Select ENSP00000367851.4:p.Ala394Pro
ENST00000378588.4:c.1180G>C ENSP00000367851.4:p.Ala394Pro
ENST00000465127.1:c.171+379034G>C ENSP00000417050.1:n.171+379034G>C
NM_000397.3:c.1180G>C , LRG_53t1:c.1180G>C NP_000388.2:p.Ala394Pro
XM_011543890.1:c.874G>C XP_011542192.1:p.Ala292Pro
NM_000397.4:c.1180G>C MANE Select NP_000388.2:p.Ala394Pro