Canonical Allele Identifier: CA397062892

Gene: CYBA

Linked Data

• ClinVar Variation Id: 1145885
• ClinVar RCV Id: RCV001484933
• dbSNP Id: rs1252969420
• gnomAD v2: 16-88712545-A-G
• gnomAD v4: 16-88646137-A-G
• MyVariant Identifiers: chr16:g.88712545A>G (hg19) ; chr16:g.88646137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646137A>G , CM000678.2:g.88646137A>G	GRCh38
NC_000016.9:g.88712545A>G , CM000678.1:g.88712545A>G	GRCh37
NC_000016.8:g.87240046A>G	NCBI36
NG_007291.1:g.9913T>C , LRG_52:g.9913T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000565588.6:c.348T>C	ENSP00000455537.2:p.Ile116=
ENST00000696156.1:c.264T>C	ENSP00000512446.1:p.Ile88=
ENST00000696157.1:c.348T>C	ENSP00000512447.1:p.Ile116=
ENST00000696158.1:c.348T>C	ENSP00000512448.1:p.Ile116=
ENST00000696159.1:c.348T>C	ENSP00000512449.1:p.Ile116=
ENST00000696160.1:c.348T>C	ENSP00000512450.1:p.Ile116=
ENST00000696161.1:c.478T>C	ENSP00000512451.1:p.Cys160Arg
ENST00000696162.1:c.348T>C	ENSP00000512452.1:p.Ile116=
ENST00000696163.1:c.297T>C	ENSP00000512453.1:p.Ile99=
ENST00000261623.8:c.348T>C MANE Select	ENSP00000261623.3:p.Ile116=
ENST00000261623.7:c.348T>C	ENSP00000261623.3:p.Ile116=
ENST00000563526.5:n.880T>C
ENST00000565588.5:c.132T>C
ENST00000566229.1:c.337T>C	ENSP00000457060.1:p.Cys113Arg
ENST00000566534.5:n.927T>C
ENST00000567174.5:c.348T>C	ENSP00000454951.1:p.Ile116=
ENST00000568278.1:c.432T>C	ENSP00000455506.1:p.Ile144=
ENST00000569359.5:c.348T>C	ENSP00000456079.1:p.Ile116=
NM_000101.3:c.348T>C	NP_000092.2:p.Ile116=
XM_011522905.1:c.348T>C	XP_011521207.1:p.Ile116=
XM_011522905.3:c.348T>C	XP_011521207.1:p.Ile116=
NM_000101.4:c.348T>C MANE Select	NP_000092.2:p.Ile116=