Canonical Allele Identifier: CA10383677

Gene: CYBB

Linked Data

• dbSNP Id: rs781887034
• ExAC: X:37642819 G / C
• MyVariant Identifiers: chrX:g.37642819G>C (hg19) ; chrX:g.37783566G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783566G>C , CM000685.2:g.37783566G>C	GRCh38
NC_000023.10:g.37642819G>C , CM000685.1:g.37642819G>C	GRCh37
NC_000023.9:g.37527763G>C	NCBI36
NG_009065.1:g.8550G>C , LRG_53:g.8550G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.218G>C	ENSP00000512461.1:p.Arg73Pro
ENST00000696171.1:c.122G>C	ENSP00000512462.1:p.Arg41Pro
ENST00000696172.1:c.218G>C	ENSP00000512463.1:p.Arg73Pro
ENST00000696173.1:n.226G>C
ENST00000378588.5:c.218G>C MANE Select	ENSP00000367851.4:p.Arg73Pro
ENST00000378588.4:c.218G>C	ENSP00000367851.4:p.Arg73Pro
ENST00000465127.1:c.171+357566G>C	ENSP00000417050.1:n.171+357566G>C
NM_000397.3:c.218G>C , LRG_53t1:c.218G>C	NP_000388.2:p.Arg73Pro
XM_011543890.1:c.-213G>C	XP_011542192.1:n.-213G>C
NM_000397.4:c.218G>C MANE Select	NP_000388.2:p.Arg73Pro