Canonical Allele Identifier: CA515670872

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2746248
• ClinVar RCV Id: RCV003509330
• dbSNP Id: rs1556468340
• gnomAD v4: X-37796016-G-T
• MyVariant Identifiers: chrX:g.37655269G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796016G>T , CM000685.2:g.37796016G>T	GRCh38
NC_000023.10:g.37655269G>T , CM000685.1:g.37655269G>T	GRCh37
NC_000023.9:g.37540209G>T	NCBI36
NG_009065.1:g.20996G>T , LRG_53:g.20996G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*58G>T	ENSP00000512461.1:n.*58G>T
ENST00000696171.1:c.453G>T	ENSP00000512462.1:p.Thr151=
ENST00000696172.1:c.338-2939G>T	ENSP00000512463.1:n.338-2939G>T
ENST00000378588.5:c.549G>T MANE Select	ENSP00000367851.4:p.Thr183=
ENST00000378588.4:c.549G>T	ENSP00000367851.4:p.Thr183=
ENST00000465127.1:c.171+370016G>T	ENSP00000417050.1:n.171+370016G>T
NM_000397.3:c.549G>T , LRG_53t1:c.549G>T	NP_000388.2:p.Thr183=
XM_011543890.1:c.243G>T	XP_011542192.1:p.Thr81=
NM_000397.4:c.549G>T MANE Select	NP_000388.2:p.Thr183=