Canonical Allele Identifier: CA412972907

Gene: CYBB

Linked Data

• dbSNP Id: rs1556464894
• gnomAD v2: X-37642846-C-T
• MyVariant Identifiers: chrX:g.37642846C>T (hg19) ; chrX:g.37783593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783593C>T , CM000685.2:g.37783593C>T	GRCh38
NC_000023.10:g.37642846C>T , CM000685.1:g.37642846C>T	GRCh37
NC_000023.9:g.37527790C>T	NCBI36
NG_009065.1:g.8577C>T , LRG_53:g.8577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.245C>T	ENSP00000512461.1:p.Ser82Phe
ENST00000696171.1:c.149C>T	ENSP00000512462.1:p.Ser50Phe
ENST00000696172.1:c.245C>T	ENSP00000512463.1:p.Ser82Phe
ENST00000696173.1:n.253C>T
ENST00000378588.5:c.245C>T MANE Select	ENSP00000367851.4:p.Ser82Phe
ENST00000378588.4:c.245C>T	ENSP00000367851.4:p.Ser82Phe
ENST00000465127.1:c.171+357593C>T	ENSP00000417050.1:n.171+357593C>T
NM_000397.3:c.245C>T , LRG_53t1:c.245C>T	NP_000388.2:p.Ser82Phe
XM_011543890.1:c.-186C>T	XP_011542192.1:n.-186C>T
NM_000397.4:c.245C>T MANE Select	NP_000388.2:p.Ser82Phe