Canonical Allele Identifier: CA397062873

Gene: CYBA

Linked Data

• ClinVar Variation Id: 2176232
• ClinVar RCV Id: RCV002610137
• dbSNP Id: rs868210009
• gnomAD v3: 16-88646135-G-T
• gnomAD v4: 16-88646135-G-T
• MyVariant Identifiers: chr16:g.88712543G>T (hg19) ; chr16:g.88646135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646135G>T , CM000678.2:g.88646135G>T	GRCh38
NC_000016.9:g.88712543G>T , CM000678.1:g.88712543G>T	GRCh37
NC_000016.8:g.87240044G>T	NCBI36
NG_007291.1:g.9915C>A , LRG_52:g.9915C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.350C>A	ENSP00000455537.2:p.Ala117Glu
ENST00000696156.1:c.266C>A	ENSP00000512446.1:p.Ala89Glu
ENST00000696157.1:c.350C>A	ENSP00000512447.1:p.Ala117Glu
ENST00000696158.1:c.350C>A	ENSP00000512448.1:p.Ala117Glu
ENST00000696159.1:c.350C>A	ENSP00000512449.1:p.Ala117Glu
ENST00000696160.1:c.350C>A	ENSP00000512450.1:p.Ala117Glu
ENST00000696161.1:c.480C>A	ENSP00000512451.1:p.Cys160Ter
ENST00000696162.1:c.350C>A	ENSP00000512452.1:p.Ala117Glu
ENST00000696163.1:c.299C>A	ENSP00000512453.1:p.Ala100Glu
ENST00000261623.8:c.350C>A MANE Select	ENSP00000261623.3:p.Ala117Glu
ENST00000261623.7:c.350C>A	ENSP00000261623.3:p.Ala117Glu
ENST00000563526.5:n.882C>A
ENST00000565588.5:c.134C>A
ENST00000566229.1:c.339C>A	ENSP00000457060.1:p.Cys113Ter
ENST00000566534.5:n.929C>A
ENST00000567174.5:c.350C>A	ENSP00000454951.1:p.Ala117Glu
ENST00000568278.1:c.434C>A	ENSP00000455506.1:p.Ala145Glu
ENST00000569359.5:c.350C>A	ENSP00000456079.1:p.Ala117Glu
NM_000101.3:c.350C>A	NP_000092.2:p.Ala117Glu
XM_011522905.1:c.350C>A	XP_011521207.1:p.Ala117Glu
XM_011522905.3:c.350C>A	XP_011521207.1:p.Ala117Glu
NM_000101.4:c.350C>A MANE Select	NP_000092.2:p.Ala117Glu