Canonical Allele Identifier: CA10383735

Gene: CYBB

Linked Data

• dbSNP Id: rs184642117
• ExAC: X:37655173 G / C
• gnomAD v2: X-37655173-G-C
• gnomAD v3: X-37795920-G-C
• gnomAD v4: X-37795920-G-C
• MyVariant Identifiers: chrX:g.37655173G>C (hg19) ; chrX:g.37795920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795920G>C , CM000685.2:g.37795920G>C	GRCh38
NC_000023.10:g.37655173G>C , CM000685.1:g.37655173G>C	GRCh37
NC_000023.9:g.37540113G>C	NCBI36
NG_009065.1:g.20900G>C , LRG_53:g.20900G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.338-31G>C	ENSP00000512461.1:n.338-31G>C
ENST00000696171.1:c.388-31G>C	ENSP00000512462.1:n.388-31G>C
ENST00000696172.1:c.338-3035G>C	ENSP00000512463.1:n.338-3035G>C
ENST00000378588.5:c.484-31G>C MANE Select	ENSP00000367851.4:n.484-31G>C
ENST00000378588.4:c.484-31G>C	ENSP00000367851.4:n.484-31G>C
ENST00000465127.1:c.171+369920G>C	ENSP00000417050.1:n.171+369920G>C
NM_000397.3:c.484-31G>C , LRG_53t1:c.484-31G>C	NP_000388.2:n.484-31G>C
XM_011543890.1:c.178-31G>C	XP_011542192.1:n.178-31G>C
NM_000397.4:c.484-31G>C MANE Select	NP_000388.2:n.484-31G>C