Canonical Allele Identifier: CA412977302

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663259A>C (hg19) ; chrX:g.37804006A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804006A>C , CM000685.2:g.37804006A>C	GRCh38
NC_000023.10:g.37663259A>C , CM000685.1:g.37663259A>C	GRCh37
NC_000023.9:g.37548203A>C	NCBI36
NG_009065.1:g.28990A>C , LRG_53:g.28990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*536A>C	ENSP00000512461.1:n.*536A>C
ENST00000696171.1:c.931A>C	ENSP00000512462.1:p.Thr311Pro
ENST00000378588.5:c.1027A>C MANE Select	ENSP00000367851.4:p.Thr343Pro
ENST00000378588.4:c.1027A>C	ENSP00000367851.4:p.Thr343Pro
ENST00000465127.1:c.171+378006A>C	ENSP00000417050.1:n.171+378006A>C
ENST00000492288.1:n.452A>C
NM_000397.3:c.1027A>C , LRG_53t1:c.1027A>C	NP_000388.2:p.Thr343Pro
XM_011543890.1:c.721A>C	XP_011542192.1:p.Thr241Pro
NM_000397.4:c.1027A>C MANE Select	NP_000388.2:p.Thr343Pro