Canonical Allele Identifier: CA412976602

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37658271A>T (hg19) ; chrX:g.37799018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799018A>T , CM000685.2:g.37799018A>T	GRCh38
NC_000023.10:g.37658271A>T , CM000685.1:g.37658271A>T	GRCh37
NC_000023.9:g.37543211A>T	NCBI36
NG_009065.1:g.23998A>T , LRG_53:g.23998A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*247A>T	ENSP00000512461.1:n.*247A>T
ENST00000696171.1:c.642A>T	ENSP00000512462.1:p.Gln214His
ENST00000696172.1:c.*14A>T	ENSP00000512463.1:n.*14A>T
ENST00000378588.5:c.738A>T MANE Select	ENSP00000367851.4:p.Gln246His
ENST00000378588.4:c.738A>T	ENSP00000367851.4:p.Gln246His
ENST00000465127.1:c.171+373018A>T	ENSP00000417050.1:n.171+373018A>T
ENST00000492288.1:n.163A>T
NM_000397.3:c.738A>T , LRG_53t1:c.738A>T	NP_000388.2:p.Gln246His
XM_011543890.1:c.432A>T	XP_011542192.1:p.Gln144His
NM_000397.4:c.738A>T MANE Select	NP_000388.2:p.Gln246His