Canonical Allele Identifier: CA397062913
Gene: CYBA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646139T>C , CM000678.2:g.88646139T>C GRCh38
NC_000016.9:g.88712547T>C , CM000678.1:g.88712547T>C GRCh37
NC_000016.8:g.87240048T>C NCBI36
NG_007291.1:g.9911A>G , LRG_52:g.9911A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000565588.6:c.346A>G ENSP00000455537.2:p.Ile116Val
ENST00000696156.1:c.262A>G ENSP00000512446.1:p.Ile88Val
ENST00000696157.1:c.346A>G ENSP00000512447.1:p.Ile116Val
ENST00000696158.1:c.346A>G ENSP00000512448.1:p.Ile116Val
ENST00000696159.1:c.346A>G ENSP00000512449.1:p.Ile116Val
ENST00000696160.1:c.346A>G ENSP00000512450.1:p.Ile116Val
ENST00000696161.1:c.476A>G ENSP00000512451.1:p.His159Arg
ENST00000696162.1:c.346A>G ENSP00000512452.1:p.Ile116Val
ENST00000696163.1:c.295A>G ENSP00000512453.1:p.Ile99Val
ENST00000261623.8:c.346A>G MANE Select ENSP00000261623.3:p.Ile116Val
ENST00000261623.7:c.346A>G ENSP00000261623.3:p.Ile116Val
ENST00000563526.5:n.878A>G
ENST00000565588.5:c.130A>G
ENST00000566229.1:c.335A>G ENSP00000457060.1:p.His112Arg
ENST00000566534.5:n.925A>G
ENST00000567174.5:c.346A>G ENSP00000454951.1:p.Ile116Val
ENST00000568278.1:c.430A>G ENSP00000455506.1:p.Ile144Val
ENST00000569359.5:c.346A>G ENSP00000456079.1:p.Ile116Val
NM_000101.3:c.346A>G NP_000092.2:p.Ile116Val
XM_011522905.1:c.346A>G XP_011521207.1:p.Ile116Val
XM_011522905.3:c.346A>G XP_011521207.1:p.Ile116Val
NM_000101.4:c.346A>G MANE Select NP_000092.2:p.Ile116Val