Canonical Allele Identifier: CA1132392694

Gene: CYBB

Linked Data

• dbSNP Id: rs1929506510
• gnomAD v3: X-37804265-G-A
• gnomAD v4: X-37804265-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804265G>A , CM000685.2:g.37804265G>A	GRCh38
NC_000023.10:g.37663518G>A , CM000685.1:g.37663518G>A	GRCh37
NC_000023.9:g.37548462G>A	NCBI36
NG_009065.1:g.29249G>A , LRG_53:g.29249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*660+135G>A	ENSP00000512461.1:n.*660+135G>A
ENST00000696171.1:c.1055+135G>A	ENSP00000512462.1:n.1055+135G>A
ENST00000378588.5:c.1151+135G>A MANE Select	ENSP00000367851.4:n.1151+135G>A
ENST00000378588.4:c.1151+135G>A	ENSP00000367851.4:n.1151+135G>A
ENST00000465127.1:c.171+378265G>A	ENSP00000417050.1:n.171+378265G>A
NM_000397.3:c.1151+135G>A , LRG_53t1:c.1151+135G>A	NP_000388.2:n.1151+135G>A
XM_011543890.1:c.845+135G>A	XP_011542192.1:n.845+135G>A
NM_000397.4:c.1151+135G>A MANE Select	NP_000388.2:n.1151+135G>A