Canonical Allele Identifier: CA397062867

Gene: CYBA

Linked Data

• ClinVar Variation Id: 1097723
• ClinVar RCV Id: RCV001419442
• dbSNP Id: rs746239603
• gnomAD v2: 16-88712542-C-T
• gnomAD v4: 16-88646134-C-T
• MyVariant Identifiers: chr16:g.88712542C>T (hg19) ; chr16:g.88646134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646134C>T , CM000678.2:g.88646134C>T	GRCh38
NC_000016.9:g.88712542C>T , CM000678.1:g.88712542C>T	GRCh37
NC_000016.8:g.87240043C>T	NCBI36
NG_007291.1:g.9916G>A , LRG_52:g.9916G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.351G>A	ENSP00000455537.2:p.Ala117=
ENST00000696156.1:c.267G>A	ENSP00000512446.1:p.Ala89=
ENST00000696157.1:c.351G>A	ENSP00000512447.1:p.Ala117=
ENST00000696158.1:c.351G>A	ENSP00000512448.1:p.Ala117=
ENST00000696159.1:c.351G>A	ENSP00000512449.1:p.Ala117=
ENST00000696160.1:c.351G>A	ENSP00000512450.1:p.Ala117=
ENST00000696161.1:c.481G>A	ENSP00000512451.1:p.Glu161Lys
ENST00000696162.1:c.351G>A	ENSP00000512452.1:p.Ala117=
ENST00000696163.1:c.300G>A	ENSP00000512453.1:p.Ala100=
ENST00000261623.8:c.351G>A MANE Select	ENSP00000261623.3:p.Ala117=
ENST00000261623.7:c.351G>A	ENSP00000261623.3:p.Ala117=
ENST00000563526.5:n.883G>A
ENST00000565588.5:c.135G>A
ENST00000566229.1:c.340G>A	ENSP00000457060.1:p.Glu114Lys
ENST00000566534.5:n.930G>A
ENST00000567174.5:c.351G>A	ENSP00000454951.1:p.Ala117=
ENST00000568278.1:c.435G>A	ENSP00000455506.1:p.Ala145=
ENST00000569359.5:c.351G>A	ENSP00000456079.1:p.Ala117=
NM_000101.3:c.351G>A	NP_000092.2:p.Ala117=
XM_011522905.1:c.351G>A	XP_011521207.1:p.Ala117=
XM_011522905.3:c.351G>A	XP_011521207.1:p.Ala117=
NM_000101.4:c.351G>A MANE Select	NP_000092.2:p.Ala117=