Canonical Allele Identifier: CA8228401

Gene: CYBA

Linked Data

• ClinVar Variation Id: 1083733
• ClinVar RCV Id: RCV001400476
• dbSNP Id: rs775610308
• ExAC: 16:88713529 C / T
• gnomAD v2: 16-88713529-C-T
• gnomAD v3: 16-88647121-C-T
• gnomAD v4: 16-88647121-C-T
• MyVariant Identifiers: chr16:g.88713529C>T (hg19) ; chr16:g.88647121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88647121C>T , CM000678.2:g.88647121C>T	GRCh38
NC_000016.9:g.88713529C>T , CM000678.1:g.88713529C>T	GRCh37
NC_000016.8:g.87241030C>T	NCBI36
NG_007291.1:g.8929G>A , LRG_52:g.8929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.183G>A	ENSP00000455537.2:p.Lys61=
ENST00000696156.1:c.183G>A	ENSP00000512446.1:p.Lys61=
ENST00000696157.1:c.183G>A	ENSP00000512447.1:p.Lys61=
ENST00000696158.1:c.183G>A	ENSP00000512448.1:p.Lys61=
ENST00000696159.1:c.183G>A	ENSP00000512449.1:p.Lys61=
ENST00000696160.1:c.183G>A	ENSP00000512450.1:p.Lys61=
ENST00000696161.1:c.183G>A	ENSP00000512451.1:p.Lys61=
ENST00000696162.1:c.183G>A	ENSP00000512452.1:p.Lys61=
ENST00000696163.1:c.183G>A	ENSP00000512453.1:p.Lys61=
ENST00000261623.8:c.183G>A MANE Select	ENSP00000261623.3:p.Lys61=
ENST00000261623.7:c.183G>A	ENSP00000261623.3:p.Lys61=
ENST00000562209.1:n.201G>A
ENST00000563526.5:n.158G>A
ENST00000566229.1:c.172G>A	ENSP00000457060.1:p.Gly58Arg
ENST00000566534.5:n.205G>A
ENST00000567174.5:c.183G>A	ENSP00000454951.1:p.Lys61=
ENST00000568278.1:c.183G>A	ENSP00000455506.1:p.Lys61=
ENST00000569359.5:c.183G>A	ENSP00000456079.1:p.Lys61=
NM_000101.3:c.183G>A	NP_000092.2:p.Lys61=
XM_011522905.1:c.183G>A	XP_011521207.1:p.Lys61=
XM_011522905.3:c.183G>A	XP_011521207.1:p.Lys61=
NM_000101.4:c.183G>A MANE Select	NP_000092.2:p.Lys61=