Canonical Allele Identifier: CA412976257

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37655330G>C (hg19) ; chrX:g.37796077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796077G>C , CM000685.2:g.37796077G>C	GRCh38
NC_000023.10:g.37655330G>C , CM000685.1:g.37655330G>C	GRCh37
NC_000023.9:g.37540270G>C	NCBI36
NG_009065.1:g.21057G>C , LRG_53:g.21057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*119G>C	ENSP00000512461.1:n.*119G>C
ENST00000696171.1:c.514G>C	ENSP00000512462.1:p.Val172Leu
ENST00000696172.1:c.338-2878G>C	ENSP00000512463.1:n.338-2878G>C
ENST00000378588.5:c.610G>C MANE Select	ENSP00000367851.4:p.Val204Leu
ENST00000378588.4:c.610G>C	ENSP00000367851.4:p.Val204Leu
ENST00000465127.1:c.171+370077G>C	ENSP00000417050.1:n.171+370077G>C
NM_000397.3:c.610G>C , LRG_53t1:c.610G>C	NP_000388.2:p.Val204Leu
XM_011543890.1:c.304G>C	XP_011542192.1:p.Val102Leu
NM_000397.4:c.610G>C MANE Select	NP_000388.2:p.Val204Leu