Canonical Allele Identifier: CA515675395

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2850514
• ClinVar RCV Id: RCV003623231
• MyVariant Identifiers: chrX:g.37663267C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804014C>T , CM000685.2:g.37804014C>T	GRCh38
NC_000023.10:g.37663267C>T , CM000685.1:g.37663267C>T	GRCh37
NC_000023.9:g.37548211C>T	NCBI36
NG_009065.1:g.28998C>T , LRG_53:g.28998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*544C>T	ENSP00000512461.1:n.*544C>T
ENST00000696171.1:c.939C>T	ENSP00000512462.1:p.Ala313=
ENST00000378588.5:c.1035C>T MANE Select	ENSP00000367851.4:p.Ala345=
ENST00000378588.4:c.1035C>T	ENSP00000367851.4:p.Ala345=
ENST00000465127.1:c.171+378014C>T	ENSP00000417050.1:n.171+378014C>T
ENST00000492288.1:n.460C>T
NM_000397.3:c.1035C>T , LRG_53t1:c.1035C>T	NP_000388.2:p.Ala345=
XM_011543890.1:c.729C>T	XP_011542192.1:p.Ala243=
NM_000397.4:c.1035C>T MANE Select	NP_000388.2:p.Ala345=