Canonical Allele Identifier: CA412972861

Gene: CYBB

Linked Data

• dbSNP Id: rs141798777
• gnomAD v2: X-37642824-C-G
• gnomAD v3: X-37783571-C-G
• gnomAD v4: X-37783571-C-G
• MyVariant Identifiers: chrX:g.37642824C>G (hg19) ; chrX:g.37783571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783571C>G , CM000685.2:g.37783571C>G	GRCh38
NC_000023.10:g.37642824C>G , CM000685.1:g.37642824C>G	GRCh37
NC_000023.9:g.37527768C>G	NCBI36
NG_009065.1:g.8555C>G , LRG_53:g.8555C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.223C>G	ENSP00000512461.1:p.Leu75Val
ENST00000696171.1:c.127C>G	ENSP00000512462.1:p.Leu43Val
ENST00000696172.1:c.223C>G	ENSP00000512463.1:p.Leu75Val
ENST00000696173.1:n.231C>G
ENST00000378588.5:c.223C>G MANE Select	ENSP00000367851.4:p.Leu75Val
ENST00000378588.4:c.223C>G	ENSP00000367851.4:p.Leu75Val
ENST00000465127.1:c.171+357571C>G	ENSP00000417050.1:n.171+357571C>G
NM_000397.3:c.223C>G , LRG_53t1:c.223C>G	NP_000388.2:p.Leu75Val
XM_011543890.1:c.-208C>G	XP_011542192.1:n.-208C>G
NM_000397.4:c.223C>G MANE Select	NP_000388.2:p.Leu75Val