Canonical Allele Identifier: CA412975873

Gene: CYBB

Linked Data

• gnomAD v4: X-37795987-T-G
• MyVariant Identifiers: chrX:g.37655240T>G (hg19) ; chrX:g.37795987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795987T>G , CM000685.2:g.37795987T>G	GRCh38
NC_000023.10:g.37655240T>G , CM000685.1:g.37655240T>G	GRCh37
NC_000023.9:g.37540180T>G	NCBI36
NG_009065.1:g.20967T>G , LRG_53:g.20967T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*29T>G	ENSP00000512461.1:n.*29T>G
ENST00000696171.1:c.424T>G	ENSP00000512462.1:p.Leu142Val
ENST00000696172.1:c.338-2968T>G	ENSP00000512463.1:n.338-2968T>G
ENST00000378588.5:c.520T>G MANE Select	ENSP00000367851.4:p.Leu174Val
ENST00000378588.4:c.520T>G	ENSP00000367851.4:p.Leu174Val
ENST00000465127.1:c.171+369987T>G	ENSP00000417050.1:n.171+369987T>G
NM_000397.3:c.520T>G , LRG_53t1:c.520T>G	NP_000388.2:p.Leu174Val
XM_011543890.1:c.214T>G	XP_011542192.1:p.Leu72Val
NM_000397.4:c.520T>G MANE Select	NP_000388.2:p.Leu174Val