Canonical Allele Identifier: CA412977361

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663284T>C (hg19) ; chrX:g.37804031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804031T>C , CM000685.2:g.37804031T>C	GRCh38
NC_000023.10:g.37663284T>C , CM000685.1:g.37663284T>C	GRCh37
NC_000023.9:g.37548228T>C	NCBI36
NG_009065.1:g.29015T>C , LRG_53:g.29015T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*561T>C	ENSP00000512461.1:n.*561T>C
ENST00000696171.1:c.956T>C	ENSP00000512462.1:p.Phe319Ser
ENST00000378588.5:c.1052T>C MANE Select	ENSP00000367851.4:p.Phe351Ser
ENST00000378588.4:c.1052T>C	ENSP00000367851.4:p.Phe351Ser
ENST00000465127.1:c.171+378031T>C	ENSP00000417050.1:n.171+378031T>C
ENST00000492288.1:n.477T>C
NM_000397.3:c.1052T>C , LRG_53t1:c.1052T>C	NP_000388.2:p.Phe351Ser
XM_011543890.1:c.746T>C	XP_011542192.1:p.Phe249Ser
NM_000397.4:c.1052T>C MANE Select	NP_000388.2:p.Phe351Ser