Canonical Allele Identifier: CA412976614

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37658276T>C (hg19) ; chrX:g.37799023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799023T>C , CM000685.2:g.37799023T>C	GRCh38
NC_000023.10:g.37658276T>C , CM000685.1:g.37658276T>C	GRCh37
NC_000023.9:g.37543216T>C	NCBI36
NG_009065.1:g.24003T>C , LRG_53:g.24003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*252T>C	ENSP00000512461.1:n.*252T>C
ENST00000696171.1:c.647T>C	ENSP00000512462.1:p.Ile216Thr
ENST00000696172.1:c.*19T>C	ENSP00000512463.1:n.*19T>C
ENST00000378588.5:c.743T>C MANE Select	ENSP00000367851.4:p.Ile248Thr
ENST00000378588.4:c.743T>C	ENSP00000367851.4:p.Ile248Thr
ENST00000465127.1:c.171+373023T>C	ENSP00000417050.1:n.171+373023T>C
ENST00000492288.1:n.168T>C
NM_000397.3:c.743T>C , LRG_53t1:c.743T>C	NP_000388.2:p.Ile248Thr
XM_011543890.1:c.437T>C	XP_011542192.1:p.Ile146Thr
NM_000397.4:c.743T>C MANE Select	NP_000388.2:p.Ile248Thr