Canonical Allele Identifier: CA412972747

Gene: CYBB

Linked Data

• dbSNP Id: rs151344481
• gnomAD v3: X-37783518-C-T
• gnomAD v4: X-37783518-C-T
• MyVariant Identifiers: chrX:g.37642771C>T (hg19) ; chrX:g.37783518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783518C>T , CM000685.2:g.37783518C>T	GRCh38
NC_000023.10:g.37642771C>T , CM000685.1:g.37642771C>T	GRCh37
NC_000023.9:g.37527715C>T	NCBI36
NG_009065.1:g.8502C>T , LRG_53:g.8502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.170C>T	ENSP00000512461.1:p.Ala57Val
ENST00000696171.1:c.74C>T	ENSP00000512462.1:p.Ala25Val
ENST00000696172.1:c.170C>T	ENSP00000512463.1:p.Ala57Val
ENST00000696173.1:n.178C>T
ENST00000378588.5:c.170C>T MANE Select	ENSP00000367851.4:p.Ala57Val
ENST00000378588.4:c.170C>T	ENSP00000367851.4:p.Ala57Val
ENST00000465127.1:c.171+357518C>T	ENSP00000417050.1:n.171+357518C>T
NM_000397.3:c.170C>T , LRG_53t1:c.170C>T	NP_000388.2:p.Ala57Val
XM_011543890.1:c.-261C>T	XP_011542192.1:n.-261C>T
NM_000397.4:c.170C>T MANE Select	NP_000388.2:p.Ala57Val