Canonical Allele Identifier: CA412977330

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663272A>T (hg19) ; chrX:g.37804019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804019A>T , CM000685.2:g.37804019A>T	GRCh38
NC_000023.10:g.37663272A>T , CM000685.1:g.37663272A>T	GRCh37
NC_000023.9:g.37548216A>T	NCBI36
NG_009065.1:g.29003A>T , LRG_53:g.29003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*549A>T	ENSP00000512461.1:n.*549A>T
ENST00000696171.1:c.944A>T	ENSP00000512462.1:p.Glu315Val
ENST00000378588.5:c.1040A>T MANE Select	ENSP00000367851.4:p.Glu347Val
ENST00000378588.4:c.1040A>T	ENSP00000367851.4:p.Glu347Val
ENST00000465127.1:c.171+378019A>T	ENSP00000417050.1:n.171+378019A>T
ENST00000492288.1:n.465A>T
NM_000397.3:c.1040A>T , LRG_53t1:c.1040A>T	NP_000388.2:p.Glu347Val
XM_011543890.1:c.734A>T	XP_011542192.1:p.Glu245Val
NM_000397.4:c.1040A>T MANE Select	NP_000388.2:p.Glu347Val