Canonical Allele Identifier: CA412977230

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663225G>C (hg19) ; chrX:g.37803972G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803972G>C , CM000685.2:g.37803972G>C	GRCh38
NC_000023.10:g.37663225G>C , CM000685.1:g.37663225G>C	GRCh37
NC_000023.9:g.37548169G>C	NCBI36
NG_009065.1:g.28956G>C , LRG_53:g.28956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*502G>C	ENSP00000512461.1:n.*502G>C
ENST00000696171.1:c.897G>C	ENSP00000512462.1:p.Lys299Asn
ENST00000378588.5:c.993G>C MANE Select	ENSP00000367851.4:p.Lys331Asn
ENST00000378588.4:c.993G>C	ENSP00000367851.4:p.Lys331Asn
ENST00000465127.1:c.171+377972G>C	ENSP00000417050.1:n.171+377972G>C
ENST00000492288.1:n.418G>C
NM_000397.3:c.993G>C , LRG_53t1:c.993G>C	NP_000388.2:p.Lys331Asn
XM_011543890.1:c.687G>C	XP_011542192.1:p.Lys229Asn
NM_000397.4:c.993G>C MANE Select	NP_000388.2:p.Lys331Asn