Canonical Allele Identifier: CA219754
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 68411
ClinVar RCV Id: RCV000059281
dbSNP Id: rs151344489
MyVariant Identifiers: chrX:g.37663151A>C (hg19) chrX:g.37803898A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803898A>C , CM000685.2:g.37803898A>C GRCh38
NC_000023.10:g.37663151A>C , CM000685.1:g.37663151A>C GRCh37
NC_000023.9:g.37548095A>C NCBI36
NG_009065.1:g.28882A>C , LRG_53:g.28882A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*428A>C ENSP00000512461.1:n.*428A>C
ENST00000696171.1:c.823A>C ENSP00000512462.1:p.Thr275Pro
ENST00000378588.5:c.919A>C MANE Select ENSP00000367851.4:p.Thr307Pro
ENST00000378588.4:c.919A>C ENSP00000367851.4:p.Thr307Pro
ENST00000465127.1:c.171+377898A>C ENSP00000417050.1:n.171+377898A>C
ENST00000492288.1:n.344A>C
NM_000397.3:c.919A>C , LRG_53t1:c.919A>C NP_000388.2:p.Thr307Pro
XM_011543890.1:c.613A>C XP_011542192.1:p.Thr205Pro
NM_000397.4:c.919A>C MANE Select NP_000388.2:p.Thr307Pro
Search 100 bp 5'
Search 100 bp 3'