Canonical Allele Identifier: CA412977336

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663275A>C (hg19) ; chrX:g.37804022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804022A>C , CM000685.2:g.37804022A>C	GRCh38
NC_000023.10:g.37663275A>C , CM000685.1:g.37663275A>C	GRCh37
NC_000023.9:g.37548219A>C	NCBI36
NG_009065.1:g.29006A>C , LRG_53:g.29006A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*552A>C	ENSP00000512461.1:n.*552A>C
ENST00000696171.1:c.947A>C	ENSP00000512462.1:p.Glu316Ala
ENST00000378588.5:c.1043A>C MANE Select	ENSP00000367851.4:p.Glu348Ala
ENST00000378588.4:c.1043A>C	ENSP00000367851.4:p.Glu348Ala
ENST00000465127.1:c.171+378022A>C	ENSP00000417050.1:n.171+378022A>C
ENST00000492288.1:n.468A>C
NM_000397.3:c.1043A>C , LRG_53t1:c.1043A>C	NP_000388.2:p.Glu348Ala
XM_011543890.1:c.737A>C	XP_011542192.1:p.Glu246Ala
NM_000397.4:c.1043A>C MANE Select	NP_000388.2:p.Glu348Ala