Canonical Allele Identifier: CA115450
Gene: CYBA HGNC NCBI

Linked Data

ClinVar Variation Id: 2259
dbSNP Id: rs104894514

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646131G>T , CM000678.2:g.88646131G>T GRCh38
NC_000016.9:g.88712539G>T , CM000678.1:g.88712539G>T GRCh37
NC_000016.8:g.87240040G>T NCBI36
NG_007291.1:g.9919C>A , LRG_52:g.9919C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000565588.6:c.354C>A ENSP00000455537.2:p.Ser118Arg
ENST00000696156.1:c.270C>A ENSP00000512446.1:p.Ser90Arg
ENST00000696157.1:c.354C>A ENSP00000512447.1:p.Ser118Arg
ENST00000696158.1:c.354C>A ENSP00000512448.1:p.Ser118Arg
ENST00000696159.1:c.354C>A ENSP00000512449.1:p.Ser118Arg
ENST00000696160.1:c.354C>A ENSP00000512450.1:p.Ser118Arg
ENST00000696161.1:c.484C>A ENSP00000512451.1:p.Arg162=
ENST00000696162.1:c.354C>A ENSP00000512452.1:p.Ser118Arg
ENST00000696163.1:c.303C>A ENSP00000512453.1:p.Ser101Arg
ENST00000261623.8:c.354C>A MANE Select ENSP00000261623.3:p.Ser118Arg
ENST00000261623.7:c.354C>A ENSP00000261623.3:p.Ser118Arg
ENST00000563526.5:n.886C>A
ENST00000565588.5:c.138C>A
ENST00000566229.1:c.343C>A ENSP00000457060.1:p.Arg115=
ENST00000566534.5:n.933C>A
ENST00000567174.5:c.354C>A ENSP00000454951.1:p.Ser118Arg
ENST00000569359.5:c.354C>A ENSP00000456079.1:p.Ser118Arg
NM_000101.3:c.354C>A NP_000092.2:p.Ser118Arg
XM_011522905.1:c.354C>A XP_011521207.1:p.Ser118Arg
XM_011522905.3:c.354C>A XP_011521207.1:p.Ser118Arg
NM_000101.4:c.354C>A MANE Select NP_000092.2:p.Ser118Arg