Canonical Allele Identifier: CA412975960

Gene: CYBB

Linked Data

• ClinVar Variation Id: 962396
• ClinVar RCV Id: RCV001236247 ; RCV001834053
• dbSNP Id: rs1929299081
• gnomAD v3: X-37796009-T-C
• gnomAD v4: X-37796009-T-C
• MyVariant Identifiers: chrX:g.37655262T>C (hg19) ; chrX:g.37796009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796009T>C , CM000685.2:g.37796009T>C	GRCh38
NC_000023.10:g.37655262T>C , CM000685.1:g.37655262T>C	GRCh37
NC_000023.9:g.37540202T>C	NCBI36
NG_009065.1:g.20989T>C , LRG_53:g.20989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*51T>C	ENSP00000512461.1:n.*51T>C
ENST00000696171.1:c.446T>C	ENSP00000512462.1:p.Val149Ala
ENST00000696172.1:c.338-2946T>C	ENSP00000512463.1:n.338-2946T>C
ENST00000378588.5:c.542T>C MANE Select	ENSP00000367851.4:p.Val181Ala
ENST00000378588.4:c.542T>C	ENSP00000367851.4:p.Val181Ala
ENST00000465127.1:c.171+370009T>C	ENSP00000417050.1:n.171+370009T>C
NM_000397.3:c.542T>C , LRG_53t1:c.542T>C	NP_000388.2:p.Val181Ala
XM_011543890.1:c.236T>C	XP_011542192.1:p.Val79Ala
NM_000397.4:c.542T>C MANE Select	NP_000388.2:p.Val181Ala