Canonical Allele Identifier: CA412977648

Gene: CYBB

Linked Data

• dbSNP Id: rs782371651
• MyVariant Identifiers: chrX:g.37664280T>A (hg19) ; chrX:g.37805027T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37805027T>A , CM000685.2:g.37805027T>A	GRCh38
NC_000023.10:g.37664280T>A , CM000685.1:g.37664280T>A	GRCh37
NC_000023.9:g.37549224T>A	NCBI36
NG_009065.1:g.30011T>A , LRG_53:g.30011T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*682T>A	ENSP00000512461.1:n.*682T>A
ENST00000696171.1:c.1077T>A	ENSP00000512462.1:p.Phe359Leu
ENST00000378588.5:c.1173T>A MANE Select	ENSP00000367851.4:p.Phe391Leu
ENST00000378588.4:c.1173T>A	ENSP00000367851.4:p.Phe391Leu
ENST00000465127.1:c.171+379027T>A	ENSP00000417050.1:n.171+379027T>A
NM_000397.3:c.1173T>A , LRG_53t1:c.1173T>A	NP_000388.2:p.Phe391Leu
XM_011543890.1:c.867T>A	XP_011542192.1:p.Phe289Leu
NM_000397.4:c.1173T>A MANE Select	NP_000388.2:p.Phe391Leu