Canonical Allele Identifier: CA10383825

Gene: CYBB

Linked Data

• dbSNP Id: rs782218836
• ExAC: X:37663282 C / T
• MyVariant Identifiers: chrX:g.37663282C>T (hg19) ; chrX:g.37804029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804029C>T , CM000685.2:g.37804029C>T	GRCh38
NC_000023.10:g.37663282C>T , CM000685.1:g.37663282C>T	GRCh37
NC_000023.9:g.37548226C>T	NCBI36
NG_009065.1:g.29013C>T , LRG_53:g.29013C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*559C>T	ENSP00000512461.1:n.*559C>T
ENST00000696171.1:c.954C>T	ENSP00000512462.1:p.Phe318=
ENST00000378588.5:c.1050C>T MANE Select	ENSP00000367851.4:p.Phe350=
ENST00000378588.4:c.1050C>T	ENSP00000367851.4:p.Phe350=
ENST00000465127.1:c.171+378029C>T	ENSP00000417050.1:n.171+378029C>T
ENST00000492288.1:n.475C>T
NM_000397.3:c.1050C>T , LRG_53t1:c.1050C>T	NP_000388.2:p.Phe350=
XM_011543890.1:c.744C>T	XP_011542192.1:p.Phe248=
NM_000397.4:c.1050C>T MANE Select	NP_000388.2:p.Phe350=