Canonical Allele Identifier: CA412977233

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37663226G>C (hg19) ; chrX:g.37803973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803973G>C , CM000685.2:g.37803973G>C	GRCh38
NC_000023.10:g.37663226G>C , CM000685.1:g.37663226G>C	GRCh37
NC_000023.9:g.37548170G>C	NCBI36
NG_009065.1:g.28957G>C , LRG_53:g.28957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*503G>C	ENSP00000512461.1:n.*503G>C
ENST00000696171.1:c.898G>C	ENSP00000512462.1:p.Val300Leu
ENST00000378588.5:c.994G>C MANE Select	ENSP00000367851.4:p.Val332Leu
ENST00000378588.4:c.994G>C	ENSP00000367851.4:p.Val332Leu
ENST00000465127.1:c.171+377973G>C	ENSP00000417050.1:n.171+377973G>C
ENST00000492288.1:n.419G>C
NM_000397.3:c.994G>C , LRG_53t1:c.994G>C	NP_000388.2:p.Val332Leu
XM_011543890.1:c.688G>C	XP_011542192.1:p.Val230Leu
NM_000397.4:c.994G>C MANE Select	NP_000388.2:p.Val332Leu