Canonical Allele Identifier: CA412972808
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783544C>G , CM000685.2:g.37783544C>G GRCh38
NC_000023.10:g.37642797C>G , CM000685.1:g.37642797C>G GRCh37
NC_000023.9:g.37527741C>G NCBI36
NG_009065.1:g.8528C>G , LRG_53:g.8528C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.196C>G ENSP00000512461.1:p.Leu66Val
ENST00000696171.1:c.100C>G ENSP00000512462.1:p.Leu34Val
ENST00000696172.1:c.196C>G ENSP00000512463.1:p.Leu66Val
ENST00000696173.1:n.204C>G
ENST00000378588.5:c.196C>G MANE Select ENSP00000367851.4:p.Leu66Val
ENST00000378588.4:c.196C>G ENSP00000367851.4:p.Leu66Val
ENST00000465127.1:c.171+357544C>G ENSP00000417050.1:n.171+357544C>G
NM_000397.3:c.196C>G , LRG_53t1:c.196C>G NP_000388.2:p.Leu66Val
XM_011543890.1:c.-235C>G XP_011542192.1:n.-235C>G
NM_000397.4:c.196C>G MANE Select NP_000388.2:p.Leu66Val