Canonical Allele Identifier: CA219708

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68388
• ClinVar RCV Id: RCV000059250
• dbSNP Id: rs151344456
• MyVariant Identifiers: chrX:g.37642763G>C (hg19) ; chrX:g.37783510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783510G>C , CM000685.2:g.37783510G>C	GRCh38
NC_000023.10:g.37642763G>C , CM000685.1:g.37642763G>C	GRCh37
NC_000023.9:g.37527707G>C	NCBI36
NG_009065.1:g.8494G>C , LRG_53:g.8494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.162G>C	ENSP00000512461.1:p.Arg54Ser
ENST00000696171.1:c.66G>C	ENSP00000512462.1:p.Arg22Ser
ENST00000696172.1:c.162G>C	ENSP00000512463.1:p.Arg54Ser
ENST00000696173.1:n.170G>C
ENST00000378588.5:c.162G>C MANE Select	ENSP00000367851.4:p.Arg54Ser
ENST00000378588.4:c.162G>C	ENSP00000367851.4:p.Arg54Ser
ENST00000465127.1:c.171+357510G>C	ENSP00000417050.1:n.171+357510G>C
NM_000397.3:c.162G>C , LRG_53t1:c.162G>C	NP_000388.2:p.Arg54Ser
XM_011543890.1:c.-269G>C	XP_011542192.1:n.-269G>C
NM_000397.4:c.162G>C MANE Select	NP_000388.2:p.Arg54Ser