Canonical Allele Identifier: CA515669218

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1588824
• ClinVar RCV Id: RCV002098501
• dbSNP Id: rs2146804107
• MyVariant Identifiers: chrX:g.37642832C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783579C>G , CM000685.2:g.37783579C>G	GRCh38
NC_000023.10:g.37642832C>G , CM000685.1:g.37642832C>G	GRCh37
NC_000023.9:g.37527776C>G	NCBI36
NG_009065.1:g.8563C>G , LRG_53:g.8563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.231C>G	ENSP00000512461.1:p.Ser77=
ENST00000696171.1:c.135C>G	ENSP00000512462.1:p.Ser45=
ENST00000696172.1:c.231C>G	ENSP00000512463.1:p.Ser77=
ENST00000696173.1:n.239C>G
ENST00000378588.5:c.231C>G MANE Select	ENSP00000367851.4:p.Ser77=
ENST00000378588.4:c.231C>G	ENSP00000367851.4:p.Ser77=
ENST00000465127.1:c.171+357579C>G	ENSP00000417050.1:n.171+357579C>G
NM_000397.3:c.231C>G , LRG_53t1:c.231C>G	NP_000388.2:p.Ser77=
XM_011543890.1:c.-200C>G	XP_011542192.1:n.-200C>G
NM_000397.4:c.231C>G MANE Select	NP_000388.2:p.Ser77=