Canonical Allele Identifier: CA412976381

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37655358T>C (hg19) ; chrX:g.37796105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796105T>C , CM000685.2:g.37796105T>C	GRCh38
NC_000023.10:g.37655358T>C , CM000685.1:g.37655358T>C	GRCh37
NC_000023.9:g.37540298T>C	NCBI36
NG_009065.1:g.21085T>C , LRG_53:g.21085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*147T>C	ENSP00000512461.1:n.*147T>C
ENST00000696171.1:c.542T>C	ENSP00000512462.1:p.Val181Ala
ENST00000696172.1:c.338-2850T>C	ENSP00000512463.1:n.338-2850T>C
ENST00000378588.5:c.638T>C MANE Select	ENSP00000367851.4:p.Val213Ala
ENST00000378588.4:c.638T>C	ENSP00000367851.4:p.Val213Ala
ENST00000465127.1:c.171+370105T>C	ENSP00000417050.1:n.171+370105T>C
NM_000397.3:c.638T>C , LRG_53t1:c.638T>C	NP_000388.2:p.Val213Ala
XM_011543890.1:c.332T>C	XP_011542192.1:p.Val111Ala
NM_000397.4:c.638T>C MANE Select	NP_000388.2:p.Val213Ala