Canonical Allele Identifier: CA412972837
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783559G>C , CM000685.2:g.37783559G>C GRCh38
NC_000023.10:g.37642812G>C , CM000685.1:g.37642812G>C GRCh37
NC_000023.9:g.37527756G>C NCBI36
NG_009065.1:g.8543G>C , LRG_53:g.8543G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.211G>C ENSP00000512461.1:p.Val71Leu
ENST00000696171.1:c.115G>C ENSP00000512462.1:p.Val39Leu
ENST00000696172.1:c.211G>C ENSP00000512463.1:p.Val71Leu
ENST00000696173.1:n.219G>C
ENST00000378588.5:c.211G>C MANE Select ENSP00000367851.4:p.Val71Leu
ENST00000378588.4:c.211G>C ENSP00000367851.4:p.Val71Leu
ENST00000465127.1:c.171+357559G>C ENSP00000417050.1:n.171+357559G>C
NM_000397.3:c.211G>C , LRG_53t1:c.211G>C NP_000388.2:p.Val71Leu
XM_011543890.1:c.-220G>C XP_011542192.1:n.-220G>C
NM_000397.4:c.211G>C MANE Select NP_000388.2:p.Val71Leu