Canonical Allele Identifier: CA515673999
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1078337
ClinVar RCV Id: RCV001393264
dbSNP Id: rs2146817035
MyVariant Identifiers: chrX:g.37663138T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803885T>C , CM000685.2:g.37803885T>C GRCh38
NC_000023.10:g.37663138T>C , CM000685.1:g.37663138T>C GRCh37
NC_000023.9:g.37548082T>C NCBI36
NG_009065.1:g.28869T>C , LRG_53:g.28869T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*415T>C ENSP00000512461.1:n.*415T>C
ENST00000696171.1:c.810T>C ENSP00000512462.1:p.Thr270=
ENST00000378588.5:c.906T>C MANE Select ENSP00000367851.4:p.Thr302=
ENST00000378588.4:c.906T>C ENSP00000367851.4:p.Thr302=
ENST00000465127.1:c.171+377885T>C ENSP00000417050.1:n.171+377885T>C
ENST00000492288.1:n.331T>C
NM_000397.3:c.906T>C , LRG_53t1:c.906T>C NP_000388.2:p.Thr302=
XM_011543890.1:c.600T>C XP_011542192.1:p.Thr200=
NM_000397.4:c.906T>C MANE Select NP_000388.2:p.Thr302=