Canonical Allele Identifier: CA515669152
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs1928997609
MyVariant Identifiers: chrX:g.37642749C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783496C>T , CM000685.2:g.37783496C>T GRCh38
NC_000023.10:g.37642749C>T , CM000685.1:g.37642749C>T GRCh37
NC_000023.9:g.37527693C>T NCBI36
NG_009065.1:g.8480C>T , LRG_53:g.8480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.148C>T ENSP00000512461.1:p.Leu50=
ENST00000696171.1:c.52C>T ENSP00000512462.1:p.Leu18=
ENST00000696172.1:c.148C>T ENSP00000512463.1:p.Leu50=
ENST00000696173.1:n.156C>T
ENST00000378588.5:c.148C>T MANE Select ENSP00000367851.4:p.Leu50=
ENST00000378588.4:c.148C>T ENSP00000367851.4:p.Leu50=
ENST00000465127.1:c.171+357496C>T ENSP00000417050.1:n.171+357496C>T
NM_000397.3:c.148C>T , LRG_53t1:c.148C>T NP_000388.2:p.Leu50=
XM_011543890.1:c.-283C>T XP_011542192.1:n.-283C>T
NM_000397.4:c.148C>T MANE Select NP_000388.2:p.Leu50=