Canonical Allele Identifier: CA412977007

Gene: CYBB

Linked Data

• gnomAD v4: X-37803877-G-A
• MyVariant Identifiers: chrX:g.37663130G>A (hg19) ; chrX:g.37803877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803877G>A , CM000685.2:g.37803877G>A	GRCh38
NC_000023.10:g.37663130G>A , CM000685.1:g.37663130G>A	GRCh37
NC_000023.9:g.37548074G>A	NCBI36
NG_009065.1:g.28861G>A , LRG_53:g.28861G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*407G>A	ENSP00000512461.1:n.*407G>A
ENST00000696171.1:c.802G>A	ENSP00000512462.1:p.Val268Met
ENST00000378588.5:c.898G>A MANE Select	ENSP00000367851.4:p.Val300Met
ENST00000378588.4:c.898G>A	ENSP00000367851.4:p.Val300Met
ENST00000465127.1:c.171+377877G>A	ENSP00000417050.1:n.171+377877G>A
ENST00000492288.1:n.323G>A
NM_000397.3:c.898G>A , LRG_53t1:c.898G>A	NP_000388.2:p.Val300Met
XM_011543890.1:c.592G>A	XP_011542192.1:p.Val198Met
NM_000397.4:c.898G>A MANE Select	NP_000388.2:p.Val300Met