Canonical Allele Identifier: CA412977347

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663279C>G (hg19) ; chrX:g.37804026C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804026C>G , CM000685.2:g.37804026C>G	GRCh38
NC_000023.10:g.37663279C>G , CM000685.1:g.37663279C>G	GRCh37
NC_000023.9:g.37548223C>G	NCBI36
NG_009065.1:g.29010C>G , LRG_53:g.29010C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*556C>G	ENSP00000512461.1:n.*556C>G
ENST00000696171.1:c.951C>G	ENSP00000512462.1:p.Asp317Glu
ENST00000378588.5:c.1047C>G MANE Select	ENSP00000367851.4:p.Asp349Glu
ENST00000378588.4:c.1047C>G	ENSP00000367851.4:p.Asp349Glu
ENST00000465127.1:c.171+378026C>G	ENSP00000417050.1:n.171+378026C>G
ENST00000492288.1:n.472C>G
NM_000397.3:c.1047C>G , LRG_53t1:c.1047C>G	NP_000388.2:p.Asp349Glu
XM_011543890.1:c.741C>G	XP_011542192.1:p.Asp247Glu
NM_000397.4:c.1047C>G MANE Select	NP_000388.2:p.Asp349Glu