Canonical Allele Identifier: CA412976060

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37655285A>C (hg19) ; chrX:g.37796032A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796032A>C , CM000685.2:g.37796032A>C	GRCh38
NC_000023.10:g.37655285A>C , CM000685.1:g.37655285A>C	GRCh37
NC_000023.9:g.37540225A>C	NCBI36
NG_009065.1:g.21012A>C , LRG_53:g.21012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*74A>C	ENSP00000512461.1:n.*74A>C
ENST00000696171.1:c.469A>C	ENSP00000512462.1:p.Ile157Leu
ENST00000696172.1:c.338-2923A>C	ENSP00000512463.1:n.338-2923A>C
ENST00000378588.5:c.565A>C MANE Select	ENSP00000367851.4:p.Ile189Leu
ENST00000378588.4:c.565A>C	ENSP00000367851.4:p.Ile189Leu
ENST00000465127.1:c.171+370032A>C	ENSP00000417050.1:n.171+370032A>C
NM_000397.3:c.565A>C , LRG_53t1:c.565A>C	NP_000388.2:p.Ile189Leu
XM_011543890.1:c.259A>C	XP_011542192.1:p.Ile87Leu
NM_000397.4:c.565A>C MANE Select	NP_000388.2:p.Ile189Leu