Canonical Allele Identifier: CA328040542
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs781784281
gnomAD v4: X-37783588-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783588G>A , CM000685.2:g.37783588G>A GRCh38
NC_000023.10:g.37642841G>A , CM000685.1:g.37642841G>A GRCh37
NC_000023.9:g.37527785G>A NCBI36
NG_009065.1:g.8572G>A , LRG_53:g.8572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.240G>A ENSP00000512461.1:p.Arg80=
ENST00000696171.1:c.144G>A ENSP00000512462.1:p.Arg48=
ENST00000696172.1:c.240G>A ENSP00000512463.1:p.Arg80=
ENST00000696173.1:n.248G>A
ENST00000378588.5:c.240G>A MANE Select ENSP00000367851.4:p.Arg80=
ENST00000378588.4:c.240G>A ENSP00000367851.4:p.Arg80=
ENST00000465127.1:c.171+357588G>A ENSP00000417050.1:n.171+357588G>A
NM_000397.3:c.240G>A , LRG_53t1:c.240G>A NP_000388.2:p.Arg80=
XM_011543890.1:c.-191G>A XP_011542192.1:n.-191G>A
NM_000397.4:c.240G>A MANE Select NP_000388.2:p.Arg80=