Canonical Allele Identifier: CA10383758

Gene: CYBB

Linked Data

• dbSNP Id: rs782237016
• ExAC: X:37655268 C / T
• gnomAD v2: X-37655268-C-T
• gnomAD v3: X-37796015-C-T
• gnomAD v4: X-37796015-C-T
• MyVariant Identifiers: chrX:g.37655268C>T (hg19) ; chrX:g.37796015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796015C>T , CM000685.2:g.37796015C>T	GRCh38
NC_000023.10:g.37655268C>T , CM000685.1:g.37655268C>T	GRCh37
NC_000023.9:g.37540208C>T	NCBI36
NG_009065.1:g.20995C>T , LRG_53:g.20995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*57C>T	ENSP00000512461.1:n.*57C>T
ENST00000696171.1:c.452C>T	ENSP00000512462.1:p.Thr151Met
ENST00000696172.1:c.338-2940C>T	ENSP00000512463.1:n.338-2940C>T
ENST00000378588.5:c.548C>T MANE Select	ENSP00000367851.4:p.Thr183Met
ENST00000378588.4:c.548C>T	ENSP00000367851.4:p.Thr183Met
ENST00000465127.1:c.171+370015C>T	ENSP00000417050.1:n.171+370015C>T
NM_000397.3:c.548C>T , LRG_53t1:c.548C>T	NP_000388.2:p.Thr183Met
XM_011543890.1:c.242C>T	XP_011542192.1:p.Thr81Met
NM_000397.4:c.548C>T MANE Select	NP_000388.2:p.Thr183Met