Canonical Allele Identifier: CA412972916

Gene: CYBB

Linked Data

• gnomAD v4: X-37783597-T-G
• MyVariant Identifiers: chrX:g.37642850T>G (hg19) ; chrX:g.37783597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783597T>G , CM000685.2:g.37783597T>G	GRCh38
NC_000023.10:g.37642850T>G , CM000685.1:g.37642850T>G	GRCh37
NC_000023.9:g.37527794T>G	NCBI36
NG_009065.1:g.8581T>G , LRG_53:g.8581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.249T>G	ENSP00000512461.1:p.Ser83Arg
ENST00000696171.1:c.153T>G	ENSP00000512462.1:p.Ser51Arg
ENST00000696172.1:c.249T>G	ENSP00000512463.1:p.Ser83Arg
ENST00000696173.1:n.257T>G
ENST00000378588.5:c.249T>G MANE Select	ENSP00000367851.4:p.Ser83Arg
ENST00000378588.4:c.249T>G	ENSP00000367851.4:p.Ser83Arg
ENST00000465127.1:c.171+357597T>G	ENSP00000417050.1:n.171+357597T>G
NM_000397.3:c.249T>G , LRG_53t1:c.249T>G	NP_000388.2:p.Ser83Arg
XM_011543890.1:c.-182T>G	XP_011542192.1:n.-182T>G
NM_000397.4:c.249T>G MANE Select	NP_000388.2:p.Ser83Arg