Canonical Allele Identifier: CA412972698

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37642744C>G (hg19) ; chrX:g.37783491C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.143C>G	ENSP00000512461.1:p.Ser48Ter
ENST00000696171.1:c.47C>G	ENSP00000512462.1:p.Ser16Ter
ENST00000696172.1:c.143C>G	ENSP00000512463.1:p.Ser48Ter
ENST00000696173.1:n.151C>G
ENST00000378588.5:c.143C>G MANE Select	ENSP00000367851.4:p.Ser48Ter
ENST00000378588.4:c.143C>G	ENSP00000367851.4:p.Ser48Ter
ENST00000465127.1:c.171+357491C>G	ENSP00000417050.1:n.171+357491C>G
NM_000397.3:c.143C>G , LRG_53t1:c.143C>G	NP_000388.2:p.Ser48Ter
XM_011543890.1:c.-288C>G	XP_011542192.1:n.-288C>G
NM_000397.4:c.143C>G MANE Select	NP_000388.2:p.Ser48Ter