Canonical Allele Identifier: CA412977012

Gene: CYBB

Linked Data

• gnomAD v4: X-37803878-T-C
• MyVariant Identifiers: chrX:g.37663131T>C (hg19) ; chrX:g.37803878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803878T>C , CM000685.2:g.37803878T>C	GRCh38
NC_000023.10:g.37663131T>C , CM000685.1:g.37663131T>C	GRCh37
NC_000023.9:g.37548075T>C	NCBI36
NG_009065.1:g.28862T>C , LRG_53:g.28862T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*408T>C	ENSP00000512461.1:n.*408T>C
ENST00000696171.1:c.803T>C	ENSP00000512462.1:p.Val268Ala
ENST00000378588.5:c.899T>C MANE Select	ENSP00000367851.4:p.Val300Ala
ENST00000378588.4:c.899T>C	ENSP00000367851.4:p.Val300Ala
ENST00000465127.1:c.171+377878T>C	ENSP00000417050.1:n.171+377878T>C
ENST00000492288.1:n.324T>C
NM_000397.3:c.899T>C , LRG_53t1:c.899T>C	NP_000388.2:p.Val300Ala
XM_011543890.1:c.593T>C	XP_011542192.1:p.Val198Ala
NM_000397.4:c.899T>C MANE Select	NP_000388.2:p.Val300Ala