Canonical Allele Identifier: CA412975925

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37655253C>A (hg19) ; chrX:g.37796000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796000C>A , CM000685.2:g.37796000C>A	GRCh38
NC_000023.10:g.37655253C>A , CM000685.1:g.37655253C>A	GRCh37
NC_000023.9:g.37540193C>A	NCBI36
NG_009065.1:g.20980C>A , LRG_53:g.20980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*42C>A	ENSP00000512461.1:n.*42C>A
ENST00000696171.1:c.437C>A	ENSP00000512462.1:p.Thr146Asn
ENST00000696172.1:c.338-2955C>A	ENSP00000512463.1:n.338-2955C>A
ENST00000378588.5:c.533C>A MANE Select	ENSP00000367851.4:p.Thr178Asn
ENST00000378588.4:c.533C>A	ENSP00000367851.4:p.Thr178Asn
ENST00000465127.1:c.171+370000C>A	ENSP00000417050.1:n.171+370000C>A
NM_000397.3:c.533C>A , LRG_53t1:c.533C>A	NP_000388.2:p.Thr178Asn
XM_011543890.1:c.227C>A	XP_011542192.1:p.Thr76Asn
NM_000397.4:c.533C>A MANE Select	NP_000388.2:p.Thr178Asn