Canonical Allele Identifier: CA16043266

Gene: CYBB

Linked Data

• ClinVar Variation Id: 373734
• ClinVar RCV Id: RCV000413530
• dbSNP Id: rs1057518579
• MyVariant Identifiers: chrX:g.37663128A>C (hg19) ; chrX:g.37803875A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803875A>C , CM000685.2:g.37803875A>C	GRCh38
NC_000023.10:g.37663128A>C , CM000685.1:g.37663128A>C	GRCh37
NC_000023.9:g.37548072A>C	NCBI36
NG_009065.1:g.28859A>C , LRG_53:g.28859A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*407-2A>C	ENSP00000512461.1:n.*407-2A>C
ENST00000696171.1:c.802-2A>C	ENSP00000512462.1:n.802-2A>C
ENST00000378588.5:c.898-2A>C MANE Select	ENSP00000367851.4:n.898-2A>C
ENST00000378588.4:c.898-2A>C	ENSP00000367851.4:n.898-2A>C
ENST00000465127.1:c.171+377875A>C	ENSP00000417050.1:n.171+377875A>C
ENST00000492288.1:n.323-2A>C
NM_000397.3:c.898-2A>C , LRG_53t1:c.898-2A>C	NP_000388.2:n.898-2A>C
XM_011543890.1:c.592-2A>C	XP_011542192.1:n.592-2A>C
NM_000397.4:c.898-2A>C MANE Select	NP_000388.2:n.898-2A>C