Canonical Allele Identifier: CA412977605

Gene: CYBB

Linked Data

• ClinVar Variation Id: 841765
• ClinVar RCV Id: RCV001044056
• dbSNP Id: rs1929527785
• MyVariant Identifiers: chrX:g.37664258G>A (hg19) ; chrX:g.37805005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37805005G>A , CM000685.2:g.37805005G>A	GRCh38
NC_000023.10:g.37664258G>A , CM000685.1:g.37664258G>A	GRCh37
NC_000023.9:g.37549202G>A	NCBI36
NG_009065.1:g.29989G>A , LRG_53:g.29989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*661-1G>A	ENSP00000512461.1:n.*661-1G>A
ENST00000696171.1:c.1056-1G>A	ENSP00000512462.1:n.1056-1G>A
ENST00000378588.5:c.1152-1G>A MANE Select	ENSP00000367851.4:n.1152-1G>A
ENST00000378588.4:c.1152-1G>A	ENSP00000367851.4:n.1152-1G>A
ENST00000465127.1:c.171+379005G>A	ENSP00000417050.1:n.171+379005G>A
NM_000397.3:c.1152-1G>A , LRG_53t1:c.1152-1G>A	NP_000388.2:n.1152-1G>A
XM_011543890.1:c.846-1G>A	XP_011542192.1:n.846-1G>A
NM_000397.4:c.1152-1G>A MANE Select	NP_000388.2:n.1152-1G>A