Canonical Allele Identifier: CA412972699

Gene: CYBB

Linked Data

• gnomAD v4: X-37783491-C-T
• MyVariant Identifiers: chrX:g.37642744C>T (hg19) ; chrX:g.37783491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783491C>T , CM000685.2:g.37783491C>T	GRCh38
NC_000023.10:g.37642744C>T , CM000685.1:g.37642744C>T	GRCh37
NC_000023.9:g.37527688C>T	NCBI36
NG_009065.1:g.8475C>T , LRG_53:g.8475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.143C>T	ENSP00000512461.1:p.Ser48Leu
ENST00000696171.1:c.47C>T	ENSP00000512462.1:p.Ser16Leu
ENST00000696172.1:c.143C>T	ENSP00000512463.1:p.Ser48Leu
ENST00000696173.1:n.151C>T
ENST00000378588.5:c.143C>T MANE Select	ENSP00000367851.4:p.Ser48Leu
ENST00000378588.4:c.143C>T	ENSP00000367851.4:p.Ser48Leu
ENST00000465127.1:c.171+357491C>T	ENSP00000417050.1:n.171+357491C>T
NM_000397.3:c.143C>T , LRG_53t1:c.143C>T	NP_000388.2:p.Ser48Leu
XM_011543890.1:c.-288C>T	XP_011542192.1:n.-288C>T
NM_000397.4:c.143C>T MANE Select	NP_000388.2:p.Ser48Leu